vitamin-b-12 and Syndrome

Food-cobalamin malabsorption is a new well-characterized syndrome. In association with pernicious anemia, it is the leading etiology of cobalamin deficiency in adult, especially in elderly patient. Currently, it is an exclusion diagnosis that requires a well-codified clinical strategy for diagnosis. There are several causes of food-cobalamin malabsorption, mainly gastric disorders and drugs (metformin and anti-acid drugs). Current treatment modality includes oral cobalamin administration with lower doses than in pernicious anemia. Studies are in the way to better characterize the food-cobalamin malabsorption in a clinical practice perspective and to validate the usefulness of oral cobalamin therapy.

Topics: Adult; Aged; Anemia, Pernicious; Drug-Related Side Effects and Adverse Reactions; Food; Food-Drug Interactions; Humans; Intestinal Absorption; Malabsorption Syndromes; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Imerslund-Gräsbeck syndrome (IGS) or selective vitamin B(12) (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B(12) deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B(12) therapy and appears in childhood. Other manifestations include failure to thrive and grow, infections and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of the patients. Anatomical anomalies in the urinary tract were observed in some Norwegian patients. Vitamin B(12) absorption tests show low absorption, not corrected by administration of intrinsic factor. The symptoms appear from 4 months (not immediately after birth as in transcobalamin deficiency) up to several years after birth. The syndrome was first described in Finland and Norway where the prevalence is about 1:200,000. The cause is a defect in the receptor of the vitamin B(12)-intrinsic factor complex of the ileal enterocyte. In most cases, the molecular basis of the selective malabsorption and proteinuria involves a mutation in one of two genes, cubilin (CUBN) on chromosome 10 or amnionless (AMN) on chromosome 14. Both proteins are components of the intestinal receptor for the vitamin B(12)-intrinsic factor complex and the receptor mediating the tubular reabsorption of protein from the primary urine. Management includes life-long vitamin B(12) injections, and with this regimen, the patients stay healthy for decades. However, the proteinuria persists. In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency.

Topics: Adolescent; Anemia, Megaloblastic; Animals; Child; Child, Preschool; Diagnosis, Differential; Dogs; Finland; Humans; Infant; Malabsorption Syndromes; Models, Animal; Norway; Prevalence; Prognosis; Proteinuria; Rare Diseases; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Nicolau Syndrome, also known as livedo-like dermatitis (LLD) or embolia cutis medicamentosa (ECM) is an infrequent complication following intramuscular and intra-articular injection of various drugs. This rare entity is characterized by severe pain and erythematous-ecchymotic reticular lesions at the injection site, which in many cases lead to necrotic ulcers and scarring. We report three cases of Nicolau Syndrome following injection of diclofenac, penicillin G, and cyanocobalamin.

Topics: Adult; Diclofenac; Female; Humans; Injections, Intramuscular; Male; Penicillin G; Skin; Skin Diseases, Vascular; Syndrome; Vitamin B 12

Topics: Amino Acid Metabolism, Inborn Errors; Humans; Intestinal Absorption; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Syndrome; Vitamin B 12

Topics: Biotin; Diagnosis, Differential; Folic Acid; Humans; Metabolism, Inborn Errors; Nervous System Diseases; Prognosis; Pyridoxine; Syndrome; Thiamine; Vitamin B 12; Vitamin D; Vitamin E Deficiency

Circadian rhythm sleep disorders which may result from dysfunction of biological clock have recently been noticed and the number of patients suffering from these types of sleep disorders have been increased. In this article, clinical features, pathophysiological aspects, diagnoses and treatments for advanced sleep phase syndrome (ASPS) and delayed sleep phase syndrome (DSPS) are described. Although the pathophysiology or the etiology of ASPS and DSPS have not definitely been elucidated, the evidence that the chronobiological treatments sometimes improve patients with these disorders confirms the possibility that circadian rhythm sleep disorders are caused by dysfunction of biological clock. Further studies based on chronobiology or molecular biology are necessary to clarify the pathophysiology or the etiology of ASPS and DSPS and to develop the treatments against these circadian rhythm sleep disorders.

Topics: Animals; Anti-Anxiety Agents; Benzodiazepines; Chronotherapy; Circadian Rhythm; Humans; Melatonin; Phototherapy; Polysomnography; Sleep Wake Disorders; Syndrome; Vitamin B 12

The sleep-wake cycle in non-24-hour sleep-wake syndrome is longer than 24 hours. Patients go to bed a little bit later each day and then can not fall asleep and wake up at the usual time. The same sleep patterns and free running rhythms in healthy subjects have been seen in temporal isolation. The mechanism of this syndrome has not been clarified, but several factors have been proposed as follows: 1) the weakness of Zeitgeber 2) decrease of sensitivity to Zeitgeber 3) the period of the circadian system is much longer than 24 hours. Vitamin B12 and melatonin were reported to be effective in treating this syndrome.

Topics: Chronotherapy; Circadian Rhythm; Humans; Melatonin; Phototherapy; Sleep Wake Disorders; Syndrome; Time Factors; Vitamin B 12

Topics: Anemia, Aplastic; Anemia, Macrocytic; Antineoplastic Agents; Bone Marrow; Hematopoietic Stem Cells; Humans; Leukemia, Myeloid, Acute; Metaplasia; Preleukemia; Prognosis; Syndrome; Vitamin B 12

This contribution deals with the occurrence of cyanide and its biological pathways in the body. Especially possibilities of detoxification are pointed out. Intoxications are caused by acute and chronical cyanide uptake. Tobacco amblyopia, retrobulbar neuritis in pernicious anaemia, Leber's optic atrophy, Nigerian nutritional neuropathy, and sterility in female heavy smokers are attributed to cyanide intoxication. Various methods for treating acute and chronic cyanide intoxication are discussed.

Topics: Acute Disease; Amblyopia; Anemia, Pernicious; Animals; Antidotes; Chronic Disease; Cyanides; Female; Humans; Inactivation, Metabolic; Infertility, Female; Manihot; Nigeria; Optic Atrophy; Optic Neuritis; Plants, Edible; Scotoma; Smoking; Syndrome; Thiocyanates; Thiosulfate Sulfurtransferase; Vitamin B 12

To compare the mean Likert (caregiver impression of change) and CAPUTE scores in children with ITS treated with daily injectable vitamin B12 alone versus injectable vitamin B12 with other multinutrients at 1 wk and 1 mo of therapy.. This was an open-label, active-controlled, assessor-blinded, noninferiority, randomized clinical trial. The participants included children aged 3 mo to 2 y with infantile tremor syndrome. Children were randomized to receive either 1 mg of daily injectable vitamin B12 or 1 mg of daily injectable vitamin B12 with other multinutrients (B12 + MV). Primary outcome measure was the mean Likert score in the two arms at 1 wk. Secondary outcome measures were mean change in CAPUTE scores at 1 wk of therapy; and mean change in CAPUTE and Vineland Social Maturity Scale (VSMS) scores after 1 mo of treatment.. Seventy-two (N = 72) of the 160 screened were enrolled and randomized. The mean (SD) Likert score in the B12 group (n = 38) was 16.1 (3.7) and in the B12 + MV group (n = 34) was 14.9 (3.7); p = 0.237. Mean (SD) change in CAPUTE (CAT/CLAMS) at 1 mo in the groups was not statistically different. The mean (SD) change in social quotient in the B12 monotherapy group, 35.0 (20.7) was significantly higher than the B12 + multinutrient group 23.5 (15.4); p=0.01.. Injectable vitamin B12 monotherapy in ITS resulted in an improvement that was noninferior to combination multinutrient therapy, strongly supporting vitamin B12 deficiency as the cause of infantile tremor syndrome.. The trial was registered at CTRI.org (CTRI/2018/05/013841).

Topics: Combined Modality Therapy; Dietary Supplements; Humans; Syndrome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency; Vitamins

Although the antiviral agent, acyclovir, is currently employed for the treatment in Ramsay Hunt syndrome, the benefit of acyclovir on facial nerve is still unknown and remains controversial. This study was designed to evaluate the effect of acyclovir in facial nerve recovery in Ramsay Hunt syndrome.. To evaluate drug effect on facial nerve function, evaluation of the facial voluntary movement and nerve excitability testing were performed. We have used an infusion therapy of acyclovir in combination with a high dose of steroid (AS), which was started within 7 days of onset of facial nerve palsy in 91 patients with Ramsay Hunt syndrome. The results were compared with those of 47 patients whose therapy was steroid alone started within 7 days of onset.. Out of 91 patients treated with AS, nerve exitability was good in 68 (75%), while it was poor in 17 and absent in six. Of 47 patients treated with steroid alone, nerve exitability was good in 25 (53%), while it was poor in 11 and absent in 11. There was statistically significant difference between AS and steroid therapy in the posttreatment degree of nerve function. Complete recovery to grade I in facial voluntary movement was attained in 82 of 91 patients (90%) in the AS therapy, while out of 47 patients treated with steroid alone complete recovery to grade I was attained in only 30 (64%). A statistically significant difference in the recovery rate of facial nerve function was induced between AS and steroid therapy.. The AS therapy was proved to keep good degree of nerve function indicated with nerve excitability testing and improve recovery rate of facial nerve in Ramsay Hunt syndrome. Based on this study, we now believe that the AS therapy is an advisable treatment modality to improve the recovery rate of facial nerve function in Ramsay Hunt syndrome.

Topics: Acyclovir; Adenosine Triphosphate; Anti-Inflammatory Agents; Antiviral Agents; Dextrans; Drug Therapy, Combination; Facial Paralysis; Female; Herpes Zoster Oticus; Humans; Male; Methylprednisolone; Recovery of Function; Severity of Illness Index; Syndrome; Vitamin B 12; Vitamin B 6

In order to verify the analgesic activity of an association of vitamin B1 - B6 - B12 (Benexol B12) in the painful vertebral syndrome, the Authors have performed a comparative trial between 20 patients treated with the association and 20 patients treated with a brain phospholipid extract (Cronassial). The results obtained in the two groups of patients are discussed.

Topics: Adult; Aged; Analgesics; Clinical Trials as Topic; Drug Combinations; Humans; Middle Aged; Pain, Intractable; Phospholipids; Pyridoxine; Spinal Diseases; Syndrome; Thiamine; Vitamin B 12

Chronic cyanide intoxication of dietary origin and riboflavine deficiency are believed to be major aetiological factors in Nigerian tropical ataxic neuropathy. The results are presented of a double-blind controlled therapeutic trial of combinations of large doses of hydroxocobalamin and cystine as cyanide binding agents together with riboflavine or placebos in Nigerian patients suffering from the tropical ataxic neuropathy. No clinical benefit was demonstrable with any of the treatments.

Topics: Ataxia; Cyanides; Cystine; Deafness; Evaluation Studies as Topic; Female; Humans; Hydroxocobalamin; Male; Middle Aged; Nigeria; Optic Atrophy; Peripheral Nervous System Diseases; Placebos; Poisoning; Riboflavin; Riboflavin Deficiency; Syndrome; Thiocyanates; Vitamin B 12

Nutritional vitamin B12 deficiency has been shown to cause Infantile epileptic spasms syndrome (IESS) in infants in anecdotal studies.. In this retrospective cohort study, we intended to study the clinical presentation, neurophysiological, laboratory abnormalities, treatment, and neurodevelopmental outcome at 6-months in infants presenting with IESS secondary to nutritional vitamin B12 deficiency (NVBD) and to compare these variables from the rest of the infants with IESS without vitamin B12 deficiency. We included only spasm-free cases or those who showed at least a 50% reduction in spasm frequency on D7 after starting oral/parenteral vitamin B12. We used well-validated measurement tools like the Developmental Assessment Scale for Indian Infants (DASII), Child Feeding Index (CFI), Burden of amplitudes and epileptiform discharges (BASED) score, countable Hypsarrhythmia paroxysm index (cHPI), durational Hypsarrhythmia paroxysm index (dHPI), and Early childhood epilepsy severity scale (E-CHESS) score for documenting these variables.. Data from 162 infants with IESS (21 caused by NVBD) were included in our study. The NVBD group had more patients residing in the rural region, with lower socioeconomic status, vegetarian mothers and poor complementary feeding index (p<0.001 for all). The NVBD group also had less number of patients requiring antiseizure medications (ASMs) and hormonal therapy(p<0.001), remained seizure free at six months (p=0.008), lower number of clusters per day (p=0.02) and the number of spasms per clusters at presentation (p=0.03), lower BASED score (p=0.03) and cHPI, dHPI at presentation (p<0.001). All of them remained spasm-free, with normal electroencephalogram at 6-months. Development quotient at baseline, at 6-months, and improvement in development quotient between these two-time points were more in the vitamin B12 deficiency group (p<0.001). All of them had clinical features of pre-ITS (infantile tremor syndrome) or ITS and it was found to be the only independent predictor of NVBD in infants with IESS. Mothers of all these infants had low serum vitamin B12 levels (<200 pg/ml).. Nutritional vitamin B12 deficiency may cause IESS in infants. Hence, vitamin B12 deficiency needs to be ruled out in patients with IESS without any definite etiology.

Topics: Humans; Infant; Retrospective Studies; Spasms, Infantile; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Infantile tremor syndrome (ITS) is a nutritional deficiency syndrome, frequently reported from the Indian subcontinent caused by vitamin B12 deficiency. The West syndrome (WS), on the other hand, is a type of epileptic encephalopathy with variable etiology.. We present a series of five children who presented with symptoms consistent with ITS and received standard intramuscular vitamin B12 therapy to which good response was observed. All these children were readmitted with WS with a time lag varying from 2 to 12 months. Magnetic resonance imaging brain and metabolic screen were within normal limits. Three out of five patients responded well to adrenocorticotropic hormone (ACTH), remaining two required additional drugs. We hypothesize that WS could have developed after ITS due to developmental desynchronization.. In the Indian scenario, it is particularly important to be aware of appearance of WS after ITS, because of high prevalence of ITS and devastating nature of WS.

Topics: Adrenocorticotropic Hormone; Brain; Child; Humans; Infant; Injections, Intramuscular; Magnetic Resonance Imaging; Spasms, Infantile; Syndrome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Administration, Oral; Humans; Infant; Injections, Intramuscular; Male; Syndrome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

The coexistence of adrenal failure with either autoimmune thyroid disease and/or type 1 diabetes is defined as autoimmune polyglandular syndrome (APS) type 2 or Schmidt's syndrome. Vitiligo, hypergonadotropic hypogonadism, chronic autoimmune hepatitis, alopecia, pernicious anaemia and seronegative arthritis may also be present. We present a case of 45-year-old Indian man with progressive jaundice and asthenia for 3 months. He was also found to have pallor, icterus, dry coarse skin and delayed relaxation of ankle jerk. Investigations showed pancytopaenia with megaloblastic changes due to pernicious anaemia, autoimmune hypothyroidism and autoimmune adrenalitis with evolving adrenal insufficiency. Upper gastrointestinal endoscopy guided biopsy showed evidence of gastric mucosal atrophy. Patient responded well to hydroxocobalamin and thyroxine replacement. Detailed workup to check for evolving APS II is prudent in a hypothyroid patient presenting with pallor and jaundice. It may alert physicians to possible adrenal crisis in the future, especially after starting levothyroxine replacement in these patients.

Topics: Addison Disease; Anemia, Pernicious; Hashimoto Disease; Humans; Jaundice; Male; Middle Aged; Polyendocrinopathies, Autoimmune; Syndrome; Thyroiditis, Autoimmune; Thyroxine; Vitamin B 12; Vitamin B Complex

Retrospective chart review of 15 patients with infantile tremor syndrome in which mothers had their serum vitamin B12 measured, showed low (<200 pg/mL) serum vitamin B12 in 9 and low-normal (<200-350 pg/mL) in 6. Of the 9 mothers who had undergone complete blood counts, anemia was present in 6 and macrocytosis in 3. Vitamin B12 deficiency appears to be common in mothers of infants with infantile tremor syndrome.

Topics: Female; Humans; Infant; Mothers; Retrospective Studies; Syndrome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

Retrospective chart review of 21 infants with infantile tremor syndrome for vitamin B12 deficiency showed low serum vitamin B12 levels in 8/16 (50%). Of the eight infants with normal levels, six had received vitamin B12 before referral. Macrocytosis and low maternal serum B12 was found in 12 and seven cases each. Treatment with vitamin B12 alone produced rapid recovery.

Topics: Breast Feeding; Child, Preschool; Developmental Disabilities; Female; Humans; Hyperpigmentation; India; Infant; Male; Mothers; Retrospective Studies; Syndrome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Humans; Infant; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Syndrome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency; Vitamins

Vitamin B(12) (VitB(12), cobalamin) deficiency has been associated with various neuropsychiatric conditions, such as peripheral neuropathy, subacute combined degeneration, affective disorders, and cognitive impairment. Current assays analyze vitamin B(12), of which only a small percentage is metabolically active. Measurement of its active fraction, holotranscobalamin, might be of greater relevance, but data in populations with neuropsychiatric populations are lacking. In this study, in order to validate VitB(12) and holotranscobalamin (holoTC) serum levels for the detection of VitB(12) deficiency in neuropsychiatric conditions, we compared the validity of VitB(12) and holoTC in a patient cohort with neuropsychiatric conditions suspicious for VitB(12) deficiency. The cohort included all patients admitted to the Department of Neurology at our university between 2005 and 2009 with at least two parameters of the VitB(12) metabolism available (n = 1,279). We used elevated methylmalonic acid as the external validation criterion for VitB(12) deficiency and restricted our analyses to subjects with normal renal function. Among all normal renal function patients, 13.2% had VitB(12) deficiency. In receiver operating characteristic curve (ROC) analysis, correlation of VitB(12) and holoTC with vitamin B(12) deficiency was generally weak, and the areas under the curve (AUC) were not significantly different for holoTC compared to vitamin B(12) in all subjects (AUC: 0.66 [95%CI: 0.51-0.82]; p = 0.04 vs. 0.72 [0.65-0.78], p < 0.0001) and in subcohorts of patients with classical VitB(12) deficiency syndromes. The positive predictive values for holoTC and vitamin B(12) were low (14.7 vs. 21.0%) and both were associated with more false-positive than true-positive test results. holoTC does not show superior diagnostic accuracy compared to VitB(12) for the detection of VitB(12) deficiency in subjects with neuropsychiatric conditions. Neither test can be recommended to diagnose VitB(12) deficiency in subjects with neuropsychiatric disorders.

Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers; Cohort Studies; Female; Humans; Male; Middle Aged; Retrospective Studies; Syndrome; Transcobalamins; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult

Fahr's syndrome is characterized by symmetrical and bilateral intracerebral calcifications, located in the basal ganglia and mostly associated with a phosphorus calcium metabolism disorder. It must be distinguished from genetic or sporadic Fahr's disease.. We report two cases of this syndrome, the first was revealed by psychotic and cognitive disorders and the other by epilepsy. In both cases, brain imaging and biology resulted in the diagnosis of Fahr's syndrome. The outcome was favorable after treatment in both cases.. These two observations illustrate various clinical signs of Fahr's syndrome.

Topics: Adult; Aged; Basal Ganglia Diseases; Calcinosis; Calcium; Calcium Metabolism Disorders; Cognition Disorders; Female; Humans; Male; Psychotic Disorders; Syndrome; Tomography, X-Ray Computed; Treatment Outcome; Vitamin B 12; Vitamin D

Nicolau syndrome (NS), also known as livedo-like dermatitis or embolia cutis medicamentosa, is a very rare complication of intramuscular and intraarticular injection of various drugs.. We herein report a case of NS developing approximately 2 h after the intramuscular administration of vitamin K1 in an extremely low birth weight premature newborn. To our knowledge, this patient is the youngest case suffering from such a livedoid skin necrosis and the first case of neonatal NS developing due to intramuscular administration of vitamin K1.

Topics: Drug Eruptions; Humans; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Injections, Intramuscular; Male; Skin; Skin Diseases, Vascular; Syndrome; Vitamin B 12; Vitamin B Complex; Vitamin K Deficiency Bleeding

A 14 year male adolescent born of 2nd degree consanguineous marriage presented with asymptomatic proteinuria and severe anemia. He had leucopenia, anisopoikilocytosis, megaloblastic erythropoiesis, megakaryocytes with low serum B12 level. His younger sibling was similarly affected. This combination suggested Imerslund-Grasbeck syndrome. The hemoglobin levels improved with injection of vitamin B12 but proteinuria persisted. During follow-up, he developed ketoacidosis due to insulin dependent diabetes mellitus. This rare combination has not been reported in the Indian literature.

Topics: Adolescent; Anemia, Megaloblastic; Child; Diabetes Mellitus, Type 1; Failure to Thrive; Humans; Hyperpigmentation; Intestinal Absorption; Malabsorption Syndromes; Male; Mutation, Missense; Prevalence; Risk Factors; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Vitamin B(12) deficiency is a well-known cause of recurrent aphthous stomatitis (RAS). However, the mechanism by which this deficiency causes the stomatitis is not well understood. Imerslund-Grasbeck syndrome (IGS) causes vitamin B(12) deficiency and proteinuria due to a defect in the vitamin B(12) receptor. We sought to determine whether the RAS observed in IGS patients is associated with neutrophil dysfunction. We report 3 infants with vitamin B(12) deficiency due to IGS, who presented with borderline or normal hemoglobin concentrations, RAS, and a neutrophil function defect. All 3 patients were homozygous for a splice site mutation affecting exon 4 of the AMN gene. A direct correlation was observed between low serum vitamin B12 levels and defective neutrophil function (low chemotaxis and elevated superoxide production) in the patients. Vitamin B(12) therapy led to an immediate resolution of aphthous stomatitis and full correction of neutrophil function. We demonstrated that serum vitamin B(12) deficiency is associated with a neutrophil chemotactic defect and RAS in IGS patients. We suggest that the RAS observed in these patients is due to this defect.

Topics: Anemia, Megaloblastic; Chemotaxis; Consanguinity; Diseases in Twins; Female; Humans; Infant; Leukocyte Disorders; Male; Membrane Proteins; Mutation; Neutrophils; Proteins; Stomatitis, Aphthous; Superoxides; Syndrome; Vitamin B 12; Vitamin B Deficiency

Methylmalonic acidemia (MMA) is caused by the deficient activity of l-methylmalonyl-CoA mutase, which is a vitamin B(12) (or cobalamin, Cbl)-dependent enzyme. MMA due to the effect of insufficient Cbl metabolism is classified into three forms (cblA, cblB, and cblH). Recently, the genes responsible for cblA and cblB were identified as MMAA and MMAB, respectively. The MMAA protein likely transports Cbl into the mitochondria for adenosylcobalamin synthesis, while the MMAB protein appears to be an adenosyltransferase. We performed a mutation analysis of 10 unrelated Japanese patients with vitamin B(12)-responsive MMA. Seven patients had mutations in MMAA, whereas the other three patients showed no disease-causing substitutions in either MMAA or MMAB. Five novel mutations were identified in MMAA (R22X, R145X, L217X, R359G, and 503delC). The 503delC mutation was observed in five of the seven MMAA patients, suggesting that the mutation is prevalent in Japanese patients. This finding may facilitate the DNA diagnosis of vitamin B(12)-responsive MMA within the Japanese population.

Topics: Acidosis; Alkyl and Aryl Transferases; Amino Acid Sequence; DNA Mutational Analysis; Humans; Japan; Membrane Transport Proteins; Methylmalonyl-CoA Mutase; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Molecular Sequence Data; Mutation; Syndrome; Vitamin B 12

Topics: Alzheimer Disease; Animals; Clinical Trials, Phase II as Topic; Clioquinol; Humans; Japan; Mice; Myelitis; Optic Neuritis; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Chronic exposure to nitrous oxide (N2O) is known to be associated with hematologic and neurologic abnormalities. When this syndrome occurs, it is generally seen in health care workers, especially dentists and anesthesiologists, who have access to nitrous oxide. Here, however, we report a case of a 55-year-old non-healthcare worker who presented with multiple neurological abnormalities. His serum vitamin B12 level was low but his Shilling test was normal. His neurologic symptoms improved after cessation of inhaling nitrous oxide and starting vitamin B12 therapy. Physicians should consider nitrous oxide abuse in non-healthcare workers presenting with neurologic symptom of unclear cause.

Topics: Humans; Inhalation Exposure; Male; Middle Aged; Nervous System Diseases; Nitrous Oxide; Substance-Related Disorders; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Low folate levels are related to increased risk for coronary artery disease in humans, while experimental work has shown that folate deficiency is thrombogenic. We hypothesized that relatively low folate levels are related to the development of acute coronary syndromes in patients with previously stable coronary artery disease.. One hundred and forty-one men were studied: 53 consecutive patients with acute coronary syndromes, 41 with stable coronary artery disease and 47 control participants. Known clinical and lipid risk factors were identified in all subjects and in addition plasma B12, plasma and red cell folate levels were measured.. Red cell folate levels were significantly lower in patients with acute coronary syndromes (510+/-178 nmol/l) than in both stable coronary artery disease patients (638+/-264 nmol/l, P< 0.005) and controls (615+/-193 nmol/l, P< 0.05 respectively). Plasma folate and B12 levels were similar in all three groups. Multiple logistic regression analysis identified red cell folate levels as the only independent predictor of acute coronary events in the whole population of patients with known coronary artery disease and in the subgroup of non-smokers (P=0.010 and P=0.031).. The present study suggests that relatively low red cell folate levels are associated with acute coronary syndromes and are an independent predictor of acute coronary events.

Topics: Acute Disease; Cholesterol, HDL; Coronary Artery Disease; Erythrocytes; Folic Acid; Humans; Male; Predictive Value of Tests; Regression Analysis; Smoking; Syndrome; Vitamin B 12

Topics: Adult; Anemia, Macrocytic; Anti-Bacterial Agents; Breast Feeding; Developmental Disabilities; Diet, Vegetarian; Female; Humans; Infant; Male; Mother-Child Relations; Pneumonia; Syndrome; Treatment Outcome; Tremor; Vitamin B 12

Developmental regression is the presenting symptom of most infants with cobalamin (Vitamin B12) deficiency. We present a report of three infants with cobalamin deficiency in which the infants also developed a movement disorder. In each case the mother was a vegetarian and the infant was exclusively breast-fed. In two of the infants, a striking movement disorder consisting of a combination of tremor and myoclonus particularly involving face, tongue, and pharynx appeared 48 h after the initiation of treatment with intramuscular cobalamin. This was associated with marked changes in plasma amino acid levels. Paradoxically, the onset of the movement disorder coincided with overall neurological improvement. The third infant had a persistent focal tremor, which appeared before the commencement of treatment. The movements slowly abated during a 3-6 week period. The presence of a movement disorder in cobalamin deficiency has received less attention than other features, but in a mild form is probably common. It may offer an early clue to the diagnosis before the onset of profound neurological deterioration. The cause of the severe movement disorder that can appear after treatment is not known.

Topics: Atrophy; Brain; Consanguinity; Developmental Disabilities; Diet, Vegetarian; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Injections, Intramuscular; Magnetic Resonance Imaging; Male; Neurologic Examination; Neuromuscular Diseases; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Two brothers in a Chinese family with selective malabsorption of vitamin B12 associated with proteinuria (Imerslund-Grasbeck syndrome) presented with widespread mottled skin pigmentation, termed poikiloderma. In contrast to anaemia, this pigmentary disturbance remained unresponsive to vitamin B12 replacement. This is different from the reported hyperpigmentation sometimes seen in vitamin B12 deficiency which is reversible following treatment. As far as is known, an irreversible and persistent skin disorder has not been reported in this syndrome before.

Topics: Adult; Humans; Malabsorption Syndromes; Male; Pigmentation Disorders; Proteinuria; Skin Pigmentation; Syndrome; Vitamin B 12

The Imerslund-Gräsbeck syndrome (IGS) is a rare inherited disorder characterized by a megaloblastic anemia due to a selective vitamin B12 malabsorption in association with a mild proteinuria. Usually recurrent infections, gastrointestinal complaints, and pallor are presenting symptoms. We report two cases of IGS with an unusual presentation.. Two girls are described with the Imerslund-Gräsbeck syndrome who had a failure to thrive as a presenting symptom without infections or gastrointestinal complaints. The diagnosis of IGS was based on marked macrocytic anemia, very low serum vitamin B12 levels, abnormal Schilling urinary excretion test results, and mild proteinuria. When parenteral vitamin B12 was started, a rapid catch-up growth was seen in both girls.. The absence of well-known causes of failure to thrive, such as recurrent infections and gastrointestinal complaints, favors the concept that the metabolic disturbances caused by an isolated cobalamin deficiency as seen in IGS causes a failure to thrive.

Topics: Anemia, Megaloblastic; Failure to Thrive; Female; Humans; Infant; Proteinuria; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Congenital dyserythropoiesis with dyskeratosis is a slow, progressive, and often fatal disease in Polled Hereford calves. Affected calves have a macrocytic normochromic anemia with a mild reticulocytosis. Studies indicate that calves are hyperferremic with increased saturation of serum total iron binding capacity, which rules out iron deficiency as a cause. Other secondary causes of dyserythropoiesis, including cobalamin and folate deficiencies, are unlikely because serum cobalamin and folate levels of affected calves were normal. Virus isolation was negative, and failure to identify bovine retroviral antigens or antibodies from several calves suggested that viral agents were not involved. Bone marrow cytologic findings were similar to those in congenital hereditary dyserythropoiesis in humans and included occasional multinucleate cells, internuclear chromatin bridging between nuclei of partially divided cells, and, more frequently, irregular nuclear shapes and chromatin patterns. DNA content and cell cycle distribution of erythroid cells appeared normal, and no electrophoretic abnormalities were detected in erythrocyte membrane proteins. The Polled Hereford syndrome is similar in many ways to type I congenital dyserythropoiesis in humans and may be an appropriate biomedical model for studying erythroid proliferation during dyserythropoiesis.

Topics: Alkaline Phosphatase; Alopecia; Anemia, Dyserythropoietic, Congenital; Animals; Bone Marrow; Cattle; Cattle Diseases; Creatinine; Erythrocyte Count; Erythrocyte Indices; Flow Cytometry; Folic Acid; gamma-Glutamyltransferase; Hematocrit; Hemoglobins; Iron; Reticulocytes; Syndrome; Vitamin B 12

The authors present a case of Imerslund-Gräsbeck syndrome, i. e. a familial megaloblastic anemia with proteinuria. The disease is due to congenital, selective malabsorption of vitamin B12. The subnormal absorption of vitamin B12 is not altered by orally given intrinsic factor, but parenteral vitamin B12 therapy results in complete recovery. Approximately 150 cases have been described in literature, the authors' case is the first in Hungary.

Topics: Anemia, Megaloblastic; Child, Preschool; Female; Humans; Malabsorption Syndromes; Proteinuria; Syndrome; Vitamin B 12

Imerslund-Najman-Gräsbeck anemia is an infrequent disease with an autosomal recessive pattern of inheritance. The characteristic anomaly is selective malabsorption of vitamin B12 by the ileal mucosa. Diagnosis rests on a positive family history and on the demonstration of megaloblastic anemia with proteinuria. The proteinuria is due to glomerular dysfunction with mesangial proliferation. Management rests on lifelong parenteral administration of vitamin B12. A case of Imerslund anemia with a favorable outcome under vitamin B12 treatment is reported.

Topics: Anemia; Genes, Recessive; Humans; Infant; Male; Pedigree; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Imerslund-Gräsbeck syndrome, an autosomal recessive trait of defective uptake of intrinsic factor-vitamin B12 complex by terminal ileum, is described in a Saudi family (two siblings and their first cousin). This rare disease has previously been reported only in Northern Europe and North African Jewish ethnic groups.

Topics: Adolescent; Anemia, Megaloblastic; Child; Humans; Male; Pedigree; Saudi Arabia; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Vitamin B12 malabsorption in the ileum has been postulated as the underlying cause of the Imerslund-Grasbeck syndrome comprising megaloblastic anemia, proteinuria, and multiple neurological abnormalities. A young Saudi child with spasticity, truncal ataxia, cerebral atrophy, megaloblastic anaemia and proteinuria is described. Replacement therapy with parenteral vitamin B12 resulted in the complete resolution of his neurological findings and brain atrophy.

Topics: Anemia, Megaloblastic; Atrophy; Brain Diseases; Cerebral Cortex; Child, Preschool; Humans; Male; Proteinuria; Syndrome; Tomography, X-Ray Computed; Vitamin B 12; Vitamin B 12 Deficiency

Immerslund-Grasbeck syndrome is an uncommon disease, characterized by megaloblastic anaemia and persistent proteinuria. A Libyan boy with the characteristic findings is presented. He received intramuscular vitamin B12 injections and there followed a remarkable clinical and haematological improvement.

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Child; Humans; Libya; Male; Proteinuria; Syndrome; Vitamin B 12

Topics: Anemia, Megaloblastic; Bone Marrow; Deoxyuridine; Developmental Disabilities; Erythrocytes; Female; Folic Acid; Humans; Infant; Iron; Male; Syndrome; Transcobalamins; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

Two Spanish siblings, a boy and girl, with transcobalamin II (TCII) deficiency are described. Both have grown and developed mentally normally after 10 years of vitamin B12 therapy. Two other siblings died soon after birth and it is almost certain that they also suffered from TCII deficiency.

Topics: Anemia, Megaloblastic; Child; Female; Follow-Up Studies; Humans; Male; Sibling Relations; Syndrome; Transcobalamins; Vitamin B 12

Blood samples from 40 patients with fissured tongue syndrome (FTS) were examined, and the results were compared with those of 20 healthy control subjects. FTS was diagnosed when a) the patient had a fissured tongue with smooth-surfaced papillae (n = 25) or b) the patient had geographic tongue and some relatives had fissured tongue (n = 15). These tongue forms were verified also histologically. To evaluate the possibility of systemic disorders in patients with FTS we determined the whole blood picture and levels of vitamin B12, serum folate, serum ferritin, and immunoglobulins (IgA, IgG, IgM, IgE). None of the patients with FTS nor any of the controls were found to be anaemic. The mean levels of serum vitamin B12, ferritin and folate were, however, slightly lower in the patient group than in the controls. These findings suggest that anaemia does not play a primary role in the aetiology of fissured tongue syndrome. The most striking haematological findings were the decreased thrombocyte and leucocyte counts in patients with fissured tongue syndrome compared with the control subjects. Furthermore, the lymphocyte count and serum IgG were low in the patient group. When the two patient groups were compared no differences were found. These observations are discussed from the standpoint of deficiency in the immunological defence mechanism of patients with fissured tongue syndrome.

Topics: Adult; Blood Cell Count; Female; Ferritins; Folic Acid; Humans; Immunoglobulins; Male; Syndrome; Tongue, Fissured; Vitamin B 12

A Syrian family is described with three children who had inherited selective vitamin B12 malabsorption associated with proteinuria. (Imerslund-Grasbeck syndrome). Although inherited the defect was apparently not present at birth. A third child had less severe vitamin B12 malabsorption, was not vitamin B12 deficient and had no proteinuria. Studies on two of the affected children with subcellular fractionation of the uptake of radioactive vitamin B12 by ileal tissue in vivo indicate a defect in the ileal receptors for IF-bound vitamin B12. These findings are different from the single in vitro experiment on a patient with this condition that has been previously reported.

Topics: Adolescent; Adult; Anemia, Megaloblastic; Child; Child, Preschool; Humans; Ileum; Infant; Malabsorption Syndromes; Male; Proteinuria; Subcellular Fractions; Syndrome; Vitamin B 12

Brachydactylia in the rabbit results from in utero haemorrhages leading to necrosis and post-natal amputations. Foetal liver study on day 14 to 16 of gestation, the critical period for thrombosis, reveals abnormalities of haematopoietic tissue. We observe a rarefaction of erythropoietic tissue and a defect of the megakaryocytic series resulting in erythrocyte macrocytosis and thrombopenia. Vitamin treatment (Folic acid + vitamin B12) administered to pregnant females prevents the above disorders and lead to production of mature forms in all the haematopoietic series. The T.A.R. syndrome (thrombocytopenia with absent radii) in humans, presents similarities with the physiological and clinical description of the br/br rabbit. Consequently, our research concerning the br/br foetuses seems to be a model for the study of several types of brachydactylia in humans either due to a vitamin deficiency or not.

Topics: Animals; Cell Count; Female; Folic Acid; Gestational Age; Hematopoiesis; Humans; Limb Deformities, Congenital; Liver; Megakaryocytes; Pregnancy; Rabbits; Syndrome; Thrombocytopenia; Vitamin B 12

Serum cobalamin (vitamin B12) and unsaturated B12 binding capacity (UBBC) have been measured in 24 cases of hypereosinophilia: 16 were cases of hypereosinophilic syndrome (HES) and 8 of secondary eosinophilia. The two groups were similar with respect to absolute eosinophil counts. Serum cobalamin and UBBC were found to be markedly increased in most cases of HES and normal in secondary eosinophilia. This elevation of UBBC was mainly related to the increase of R binders (transcobalamins I and III). The elevated serum cobalamin and R binders in HES were due neither to a higher intracellular content of R binders nor to an increased release of these binders from eosinophils of HES. Pure fractions of eosinophils obtained from HES and secondary eosinophilia did not exhibit any difference in vitamin B12 binders. On the other hand, neutrophil-rich fractions from the same patients showed a higher content of intracellular B12 binding proteins than pure eosinophil fractions, irrespective of the cause of eosinophilia. These findings suggest that the increased serum vitamin B12 and UBBC could reflect an expanded pool of both eosinophils and neutrophils in HES and, thus, provide an additional argument for the inclusion of this syndrome in the group of myeloproliferative disorders.

Topics: Eosinophilia; Hodgkin Disease; Humans; Immunoblastic Lymphadenopathy; Leukocytes; Parasitic Diseases; Syndrome; Transcobalamins; Vitamin B 12

A follow-up study has been performed on 14 patients, now aged 6-46 years, with Imerslund-Gräsbeck anemia (congenital, hereditary selective malasorption of vitamin B12). On intramuscular vitamin B12 therapy, the patients are clinically and hematologically normal. Those who had constant proteinuria in childhood continue to excrete protein in the urine. Our patients excrete an average of 750 mg of protein per 24 hours (range 13-1460 mg). The proteinuria is predominantly of glomerular origin, but some is also of tubular origin. Renal biopsies of the two oldest patients were normal on light microscopy. Electron microscopy revealed moderate signs of chronic glomerulopathy of mesangioproliferative type in both patients. The renal lesions do not seem to be progressive.

Topics: Adolescent; Adult; Anemia, Macrocytic; Child; Chronic Disease; Female; Follow-Up Studies; Humans; Kidney; Kidney Function Tests; Male; Middle Aged; Prognosis; Proteinuria; Recurrence; Syndrome; Vitamin B 12

1. Addition of supplemental choline to a biotin-deficient diet decreased the biotin status of chicks and increased mortality from fatty liver and kidney syndrome (FLKS). 2. Mortality was also increased by dietary supplementation with a mixture of other B-vitamins, excluding biotin, and was highest when the choline and B-vitamin supplements were combined. 3. The occurrence of sudden death syndrome (SDS) was unaffected by dietary biotin concentration. 4. A previously unreported condition was observed in which birds died showing post-mortem signs characteristic of both FLKS and SDS and whose occurrence was related to the biotin status of the chicks.

Topics: Animals; Biotin; Chickens; Choline; Death, Sudden; Diet; Fatty Liver; Female; Kidney Diseases; Male; Poultry Diseases; Pyruvate Carboxylase; Syndrome; Vitamin B 12

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Child; Child, Preschool; Female; Humans; Infant; Malabsorption Syndromes; Proteinuria; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

A colony of rhesus monkeys made vitamin B12 deficient through dietary deprivation has been maintained since 1970. Deficient animals regularly develop neurologic lesions histologically, ultrastructurally, and topographically indistinguishable from those of human subacute combined degeneration but have failed to develop overt hematologic changes. No megaloblastic alterations, other evidence of impaired blood cell production, or subtle differences in mean red cell size are found. dU suppression tests on bone marrow were performed to determine whether functional B12 deficiency existed. All B12-deficient monkeys had markedly abnormal dU suppression test results after more than 10 months of B12 depviation, corrected by addition of B12 in vitro, whereas controls remained normal. Reasons for these disparate findings are considered, including species differences in metabolism of cobalamin analogues, cobalamin, and transcobalamins; the sensitivity of the dU test; the fact that ability to utilize preformed nucleotides may be greater in monkeys than in humans.

Topics: Animals; Bone Marrow Cells; Deoxyuridine; Erythrocyte Volume; Folic Acid; Iron; Macaca mulatta; Male; Nervous System Diseases; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

A 7 1/2-year-old girl with a rare defect in cobalamin (vitamin B12) metabolism ("cobalamin C" type) developed epileptiform ocular and eyelid movements as the major clinical manifestation of the disease. One of three other patients who have been described with congenital syndrome was similarly noted to have "fluttering" of the eyelids interpreted as epileptic discharges. The metabolic abnormality produced a defect in synthesis of cobalamin coenzymes. It is characterized biochemically by the excreation of methylmalonic acid and homocystine in the urine.

Topics: Child; Child, Preschool; Cobamides; Epilepsy; Eye Movements; Eyelid Diseases; Female; Homocystinuria; Humans; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Syndrome; Vitamin B 12

Topics: Age Factors; Anemia, Macrocytic; Diagnosis, Differential; Female; Humans; Infant; Syndrome; Vitamin B 12

Renal biopsy material obtained from a 6 year old girl suffering from an Imerslund-Najman-Gräsbeck-syndrome was examined by light- and electron-microscopy. Clinically the patient presented the characteristic intrinsic factor independent vitamin B12 malabsorption with severe megaloblastic anemia and a benign nephropathy with non-selective proteinuria. Electron microscopic examination of the prenal glomeruli showed no obvious alterations of the Electron microscopic examination of the renal glomeruli showed no obvious alterations of the capillary basement membranes but revealed a considerable diffuse dilatation of the rough endoplasmic reticulum in the podocytes with accumulation of a finely fibrillar material within the widened cisternae. This finding is interpreted as an indication that the synthesis and/or secretory activities of the podocytes, as far as the basement membrane is concerned, and thus the basement membranes themselves, may be altered with the consequence of an increased permeability of the filtration barrier. Because proteinurie contrary to anemia did not respond to parenteral vitamin B12 therapy and therefore is obviously not vitamin B12 dependent, it is assumed that both vitamin B12 malabsorption and glomerulopathy in this hereditary disease are established by a pleiotropic gene or two closely associated genes.

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Child; Female; Humans; Kidney Glomerulus; Malabsorption Syndromes; Microscopy, Electron; Proteinuria; Syndrome; Vitamin B 12

Topics: Adult; Aged; Amino Acids; Betamethasone; Deglutition Disorders; Galantamine; Glossopharyngeal Nerve; Humans; Male; Muramidase; Pharyngeal Diseases; Pyrrolidines; Syndrome; Thiamine; Virus Diseases; Vitamin B 12

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Child; Child, Preschool; Female; Humans; Infant; Male; Proteinuria; Syndrome; Vitamin B 12

We studied a six-month-old infant with severe megaloblastic anemia, coma and hyperpigmentation of the extremities. He was found to have methylmalonic aciduria (79 mumol per milligram of creatinine) and homocystinuria (0.85 mumol per milligram of creatinine). Additional biochemical abnormalities included cystathioninuria, glycinuria, methylcitric aciduria, 3-hydroxypropionic aciduria and formic aciduria. The concentration of vitamin B12 in the serum was 20 pg per milliliter. This severe nutritional deficiency was a consequence of inadequate intake, for the infant was exclusively breast-fed by a strictly vegetarian mother who manifested methylmalonic aciduria. Our observations emphasize the importance of educating strict vegetarians about the deficiency of vitamin B12 in their diets and the importance of vitamin B12 supplementation.

Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Breast Feeding; Diagnosis, Differential; Diet, Vegetarian; Female; Homocystinuria; Humans; Infant; Infant Nutrition Disorders; Male; Methylmalonic Acid; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Leukocyte peroxidase deficiency has been demonstrated in a confirmed case of neuronal ceroid-lipofuscinosis with guaiacol, o-dianisidine, and p-phenylenediamine used as hydrogen donors in the peroxidase assay system. Nitroblue tetrazolium (NBT) reduction values in the leukocytes of the patient were also found to be significantly higher than those of normal controls, indicating the impaired hydrogen peroxide catabolism. When the patient was given a daily dose of vitamin E (400 I.U.), vitamin C (1 gm), and methionine (1 gm.) along with a weekly intramuscular injection of vitamin B12, the leukocyte peroxidase values of the patient returned to normal levels in about 7 weeks. NBT reductions values also decreased to normal levels. The regenerated enzyme in the patient's leukocytes was shown to have similar chromatographic and electrophoretic properties as the leukocyte peroxidase of normal controls. After about 28 weeks of therapy, the peroxidase levels in the leukocytes of the patient returned to original low levels, with concomitant increase in the NBT reduction values. The effect of vitamin therapy on normal control subjects was, at least in some cases, an increase of leukocyte peroxidase. A significant increase in the peroxidase levels of the patient's leukocytes during vitamin therapy remains unexplained, and the possibility of peroxidase deficiency being a secondary manifestation rather than the primary defect in Batten's disease cannot be ruled out.

Topics: Ascorbic Acid; Child, Preschool; Humans; In Vitro Techniques; Leukocytes; Lipidoses; Methionine; Peroxidases; Syndrome; Vitamin B 12; Vitamin E

The vitamin B12 levels of cerebrospinal fluid were assayed microbiologically (Lactobacillus leichmannii method) using samples from 44 patients with various neurological disorders, 4 patients with megaloblastic anemia and 34 controls. Twenty-seven controls that did not receive vitamin B12 showed a mean cerebrospinal fluid vitamin B12 level of 21.5 pg/ml (range: 0-60). No decrease in cerebrospinal fluid vitamin B12 level was seen in patients with subacute myelo-optico-neuropathy (SMON). High levels of cerebrospinal fluid vitamin B12 were observed only in the patients receiving long term administration of the vitamin. Intrathecal administration of vitamin B12 caused only a slight increase in serum vitamin B12 level after four hours. The existence of blood brain barrier for vitamin B12 was suggested.

Topics: Anemia, Megaloblastic; Central Nervous System Diseases; Humans; Myelitis; Optic Neuritis; Syndrome; Vitamin B 12

Three cases of congenital selective malabsorption of vitamin B12 (Imerslund-Grasbeck syndrome) are presented. Pathophysiological aspected and clinical symptoms of this disease are discussed together with other megaloblastic anaemias in childhood caused by vitamin B12 deficiency.

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Chronic Disease; Female; Humans; Infant; Intestinal Absorption; Recurrence; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia, Macrocytic; Biopsy; Chronic Disease; Humans; Infant; Intestinal Mucosa; Intestine, Small; Malabsorption Syndromes; Male; Syndrome; Vitamin B 12

Topics: Adolescent; Anemia, Macrocytic; Chronic Disease; Female; Humans; Recurrence; Syndrome; Vitamin B 12

Egg production, liver lipid, and liver hemorrhagic score were not significantly altered by diets that contained inositol (at 1 or 2 g./kg. diet) and fed ad libitum, or force-fed to S.C. White Leghorn hens to produce fatty liver-hemorrhagic syndrome (FLHS). FLHS was not prevented by lecithin, iodinated casein alone or with inositol. The vitamins B12, choline and E appeared to reduce FLHS and liver lipid in the one group tested. The dose-response relationship between feed intake, liver hemorrhagic score and liver lipid content was again demonstrated.

Topics: Animal Feed; Animals; Caseins; Chickens; Choline; Eggs; Fatty Liver; Female; Hemorrhage; Inositol; Iodine; Lipids; Lipotropic Agents; Liver; Oviposition; Phosphatidylcholines; Poultry Diseases; Syndrome; Vitamin B 12; Vitamin E; Vitamins

Topics: Achlorhydria; Adenoma, Islet Cell; Blood Glucose; Calcium; Dehydration; Diarrhea; Gastric Juice; Gastrointestinal Hormones; Humans; Hypokalemia; Pancreatic Juice; Pancreatic Neoplasms; Syndrome; Vitamin B 12

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Child; Chronic Disease; Follow-Up Studies; Humans; Male; Recurrence; Syndrome; Vitamin B 12

Vitamin B12 turnover studies were carried out in 2 patients with pernicious anemia and subacute combined degeneration of the spinal cord. The retention of a tracer dose (0.5 mug) of intravenously administered 58Co-labeled vitamin B12 in these 2 patients was measured by whole-body monitoring over periods of 94 and 134 days. Vitamin B12 turnover (per cent per day) was calculated and the results compared with normal subjects and with pernicious anemia patients having no neurologic dysfunction. The loss of radioactive-B12 from the body was described by a single exponential model, confirming that the loss of vitamin B12 takes place as though from a single pool. There was no difference in vitamin B12 turnover between the patients with subacute combined degeneration of the spinal cord and normal subjects or other pernicious anemia patients without neurologic involvement. These findings contradict the suggestion that the development of neuropathy in vitamin B12 deficiency might be related to an increased requirement for vitamin B12.

Topics: Adult; Anemia, Pernicious; Cobalt Radioisotopes; Humans; Male; Middle Aged; Spinal Cord Diseases; Syndrome; Vitamin B 12

Topics: Administration, Oral; Anemia, Macrocytic; Anemia, Megaloblastic; Diagnosis, Differential; DNA; Electroencephalography; Electromyography; Folic Acid Deficiency; Humans; Mental Disorders; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Deficiency

Topics: Adolescent; Blood Transfusion; Cytosine; Female; Folic Acid; Humans; Leukemia, Erythroblastic, Acute; Leukemia, Myeloid, Acute; Syndrome; Vincristine; Vitamin B 12

Topics: Achlorhydria; Adult; Aged; Anemia, Macrocytic; Anemia, Pernicious; Antibodies; Erythrocyte Count; Folic Acid; Histamine; Humans; Intrinsic Factor; Malabsorption Syndromes; Middle Aged; Pentagastrin; Reticulocytes; Schilling Test; South Africa; Stimulation, Chemical; Syndrome; Tetracycline; Vitamin B 12

Topics: Adult; Age Factors; Aged; Alcoholism; Color Perception Tests; Color Vision Defects; Fatty Liver; Folic Acid; Humans; Liver Cirrhosis; Male; Middle Aged; Smoking; Syndrome; Vitamin B 12

Topics: Diagnosis, Differential; Female; History, 19th Century; History, 20th Century; Humans; Intestinal Absorption; Male; Middle Aged; Myelitis; Neurologic Manifestations; Retrospective Studies; Spinal Cord Diseases; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Animal Feed; Animals; Chickens; Choline; Diet; Edible Grain; Fatty Liver; Kidney; Kidney Diseases; Lipid Metabolism; Liver; Methionine; Poultry Diseases; Selenium; Syndrome; Vitamin B 12

Topics: Adolescent; Adult; Age Factors; Aged; Anemia, Macrocytic; Anemia, Pernicious; Autoantibodies; Black or African American; Black People; Diagnosis, Differential; Ethnicity; Folic Acid; Gastric Juice; Humans; Intrinsic Factor; Malabsorption Syndromes; Middle Aged; South Africa; Syndrome; Tetracycline; Vitamin B 12

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Base Sequence; Coenzymes; DNA; Enzymes; Genes, Regulator; Humans; Infant; Leucine; Mutation; Pyridoxine; Syndrome; Tryptophan; Vitamin B 12

Topics: Aged; Bone Marrow Examination; Chromosome Aberrations; Chromosome Disorders; Humans; Karyotyping; Leukemia, Myeloid; Male; Syndrome; Vitamin B 12

Topics: Aflatoxins; Animals; Aspergillus flavus; Chickens; Choline; Fatty Liver; Female; Inositol; Lipids; Liver; Poultry Diseases; Syndrome; Vitamin B 12; Vitamin E; Vitamins

Topics: Animals; Body Weight; Chickens; Choline; Cobalt; Diet; Fatty Liver; Female; Hemorrhage; Inositol; Lipids; Liver; Methionine; Poultry Diseases; Selenium; Syndrome; Vitamin B 12; Vitamin E

Topics: Anemia, Macrocytic; Humans; Infant; Infant Nutrition Disorders; Malabsorption Syndromes; Male; Proteinuria; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Adult; Amblyopia; Anemia, Pernicious; Child; Chloroquine; Craniocerebral Trauma; Cyanides; Female; Humans; Ischemia; Male; Methanol; Nerve Compression Syndromes; Optic Atrophy; Optic Chiasm; Optic Neuritis; Poisoning; Scotoma; Smoking; Syndrome; Syphilis; Vision Disorders; Vitamin B 12

Topics: Adolescent; Anemia; Ascorbic Acid; Child; Corrinoids; Folic Acid; Geriatrics; Humans; Injections, Intravenous; Liver Diseases; Niacinamide; Syndrome; Vitamin B 12; Vitamin B Complex; Vitamins

Topics: Anemia; Diagnosis; Humans; India; Infant; Intellectual Disability; Pigmentation Disorders; Syndrome; Tremor; Vitamin B 12

Topics: Corrinoids; Enzyme Precursors; Facial Neuralgia; Hematinics; Humans; Peptide Hydrolases; Syndrome; Thiamine; Vitamin B 12; Vitamin B Complex; Vitamins

Topics: Coronary Disease; Corrinoids; Folic Acid; Hematinics; Syndrome; Vitamin B 12

Topics: Corrinoids; Headache; Hematinics; Syndrome; Vitamin B 12

Topics: Corrinoids; Diarrhea; Folic Acid; Humans; Riboflavin; Syndrome; Vitamin A; Vitamin B 12; Vitamin B Complex; Vitamins

Topics: Adrenal Cortex; Adrenal Cortex Diseases; Corrinoids; Hematinics; Nitrogen; Syndrome; Urine; Vitamin B 12

Topics: Anemia; Syndrome; Vitamin B 12; Vitamin B Complex

Topics: Corrinoids; Hematinics; Humans; Pain Management; Somatoform Disorders; Syndrome; Vitamin B 12

Topics: Corrinoids; Diabetes Complications; Diabetes Mellitus; Humans; Pain Management; Syndrome; Vitamin B 12

Topics: Blood; Corrinoids; Folic Acid; Gastrointestinal Diseases; Humans; Riboflavin; Syndrome; Urine; Vitamin A; Vitamin B 12; Vitamin K; Vitamins

Topics: Corrinoids; Hematinics; Humans; Rheumatic Diseases; Syndrome; Vitamin B 12

Topics: Anemia; Anemia, Pernicious; Corrinoids; Databases, Genetic; Hematinics; Syndrome; Vitamin B 12

Topics: Anemia; Anemia, Pernicious; Corrinoids; Myelitis; Syndrome; Vitamin B 12

Topics: Anemia; Corrinoids; Hematinics; Humans; Syndrome; Vitamin B 12

Topics: Agranulocytosis; Arsphenamine; Corrinoids; Humans; Syndrome; Vitamin B 12; Vitamin B Complex

Topics: Anemia; Anemia, Pernicious; Corrinoids; Humans; Psychotic Disorders; Syndrome; Vitamin B 12