vitamin-b-12 and Intellectual-Disability

Topics: Central Nervous System Diseases; Diagnosis, Differential; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Prognosis; Pyridoxine; Vitamin B 12

The fetus, the neonate, and the pregnant woman have a greater requirement for folic acid and vitamin B12 and are more likely to suffer from a deficiency of these vitamins. This article reviews the source, requirement, absorption, and metabolism of these vitamins and discusses the problems attributed to their deficiency in pregnancy and in the neonatal period.

Topics: Abortion, Spontaneous; Anemia; Congenital Abnormalities; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant, Newborn; Infant, Premature; Intellectual Disability; Neural Tube Defects; Pregnancy; Pregnancy Complications; Pregnancy Complications, Hematologic; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Adult; Aged; Anemia, Megaloblastic; Anticonvulsants; Blood-Brain Barrier; Brain; Brain Diseases; Child; Epilepsy; Erythrocytes; Female; Folic Acid; Folic Acid Deficiency; Formiminoglutamic Acid; Humans; Intellectual Disability; Male; Mental Disorders; Metabolism, Inborn Errors; Methotrexate; Middle Aged; Nervous System Diseases; Vitamin B 12; Vitamin B 12 Deficiency

Literature relevant to drugs reported as affecting or not affecting nutrient metabolism and diet for developmentally disabled persons was summarized. Many investigators have found side effects of anticonvulsant drugs on vitamin D, calcium, folid acid, and vitamin B12 metabolism. Growth-retarding effects of certain central nervous system stimulants have also been reported. It has beed found that tranquilizers and antidepressant therapy show no effects on nutrient metabolism. Vitamins used in pharmacologic doses are considered as drugs; their therapeutic use was briefly reviewed here. The need for more research on biochemical interaction of drugs and nutrients was recommended.

Topics: Anticonvulsants; Antidepressive Agents; Appetite; Dextroamphetamine; Drug-Related Side Effects and Adverse Reactions; Folic Acid; Growth; Humans; Hyperkinesis; Intellectual Disability; Metabolism, Inborn Errors; Methylphenidate; Nutritional Physiological Phenomena; Pyridoxine; Tranquilizing Agents; Vitamin B 12; Vitamin D; Vitamins

Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Biopsy; Carbon Radioisotopes; Child; Child, Preschool; Diet Therapy; Female; FIGLU Test; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Intellectual Disability; Liver; Male; Phenytoin; Rats; Seizures; Skin; Speech Disorders; Transferases; Urocanate Hydratase; Vitamin B 12

Intellectual disability (ID) is a condition characterized by significant limitations in both cognitive development and adaptive behavior. The diagnosis is made through clinical assessment, standardized tests, and intelligence quotient (IQ). Genetic, inflammation, oxidative stress, and diet have been suggested to contribute to ID, and biomarkers could potentially aid in diagnosis and treatment. Study included children and adolescents aged 6-16 years. The ID group (n = 16) and the control group (n = 18) underwent the Wechsler Intelligence Scale for Children (WISC-IV) test, and blood samples were collected. Correlations between biomarker levels and WISC-IV test scores were analyzed. The ID group had an IQ score below 75, and the values of four domains (IQ, IOP, IMO, and IVP) were lower compared to the control group. Serum levels of FKN, NGF-β, and vitamin B12 were decreased in the ID group, while DCFH and nitrite levels were increased. Positive correlations were found between FKN and the QIT and IOP domains, NGF and the QIT and IMO domains, and vitamin B12 and the ICV domain. TNF-α showed a negative correlation with the ICV domain. Our study identified FKN, NGF-β, and vitamin B12 as potential biomarkers specific to ID, which could aid in the diagnosis and treatment of ID. TNF-α and oxidative stress biomarkers suggest that ID has a complex etiology, and further research is needed to better understand this condition and develop effective treatments. Future studies could explore the potential implications of these biomarkers and develop targeted interventions based on their findings.

Topics: Adolescent; Biomarkers; Child; Cognition; Humans; Intellectual Disability; Tumor Necrosis Factor-alpha; Vitamin B 12

To present the very long-term follow up of patients with cobalamin A (cblA) deficiency.. A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis of cblA deficiency.. We included 23 patients (mean age: 27 ± 7.6 years; mean follow-up: 24.9 ± 7.6 years). Disease onset was mostly pediatric (78% < 1 year, median = 4 months) with acute neurologic deterioration (65%). Eight patients presented with chronic symptoms, and one had an adult-onset mild cblA deficiency. Most of the patients (61%) were initially classified as vitamin B12-unresponsive methylmalonic aciduria (MMA); in vitro B12 responsiveness was subsequently found in all the tested patients (n = 13). Initial management consisted of protein restriction (57%), B12 (17%), or both (26%). The main long-term problems were intellectual disability (39%) and renal failure (30%). However, 56.5% of the patients were living independently. Intellectual disability was equally distributed among the initial treatment groups, while renal failure (moderate and beginning at the age of 38 years) was present in only one out of seven patients initially treated with B12.. We provide a detailed picture of the long-term outcome of a series of adult cblA patients, mostly diagnosed before the enzymatic and molecular era. We confirm that about 35% of the patients do not present acutely, underlining the importance of measuring MMA in any case of unexplained chronic renal failure, intellectual disability, or growth delay. In addition, we describe a patient with a milder adult-onset form. Early B12 supplementation seems to protect from severe renal insufficiency.

Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Humans; Intellectual Disability; Kidney Failure, Chronic; Methylmalonic Acid; Retrospective Studies; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult

Cobalamin C (cblC) disease and Mowat-Wilson syndrome (MWS) are rare hereditary diseases. To date, there have been no reports of people suffering from these two genetic diseases, or whether there is any correlation between the two diseases. We reported a 2-year-old girl with both cblC disease and MWS. The patient initially manifested as slow weight gain, hypotonia, broad nasal bridge, high forehead, high palate arch, ear crease, patent ductus arteriosus, atrial and ventricular septal defect and bilateral mild ventriculomegaly in the neonatal period. However, as the baby grew older, the typical facial features became more prominent, and overall developmental delays were noted at the subsequent follow-up, with the motor and cognitive development significantly lagging behind that of other children of the same age. At 26 days old, laboratory tests revealed remarkably elevated levels of serum homocysteine, C3/C2 and urine organic acid. Whole-exome sequencing detected compound heterozygous variants in MMACHC, including one previously reported mutation [c.609G > A (p.W203X) and a novel missense mutation[ c.643 T > C (p.Y215H)]. The computer simulations of the protein structure analysis of the novel missense mutation showed the variant p.Y215H replaced a neutral amino acid with a strongly basic lysine, which broken the local structure by changing the carbon chain skeleton and decreasing the interaction with adjacent amino acid. This is expected to damage the utilization of vitamin B12 and influence the synthesis of AdoCbl and MeCbl, contributing to its pathogenicity. Thus, clinical and genetic examinations confirmed the cblC disease. Another heterozygous variant in ZEB2 [NM_014795; loss1(exon:2-10)(all); 127901 bp] was detected by whole-exome sequencing. The heterozygous 3.04 Mb deletion in EB2 [GRCH37]del(2)(q22.2q22.3) (chr2:142237964-145274917) was also confirmed by genome-wide copy number variations (CNVs) scan, which was pathogenic and led to the diagnosis of Mowat-Wilson syndrome. The biochemical indicators associated with cblC disease in the patient were well controlled after treatment with vitamin B12 and betaine. Here, a patient with coexisting cblC disease and MWS caused by different pathogenic genes was reported, which enriched the clinical research on these two rare genetic diseases.

Topics: Child; Child, Preschool; DNA Copy Number Variations; Facies; Female; Hirschsprung Disease; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Microcephaly; Mutation; Oxidoreductases; Vitamin B 12; Vitamin B 12 Deficiency; Zinc Finger E-box Binding Homeobox 2

HCFC1, a global transcriptional regulator, has been shown to associate with MMACHC expression. Pathogenic variants in HCFC1 cause X-linked combined methylmalonic acidemia and hyperhomocysteinemia, CblX type (MIM# 309541). Recent studies showed that certain variants in HCFC1 are associated with X-linked intellectual disability with mild or absent metabolic abnormalities. Here, we report five subjects (three males, two females) from the same family with a novel predicted loss of function HCFC1 variant. All five patients exhibit developmental delay or intellectual disability/learning difficulty and some dysmorphic features; findings were milder in the female as compared to male subjects. Biochemical studies in all patients did not show methylmalonic acidemia or hyperhomocysteinemia but revealed elevated vitamin B12 levels. Trio exome sequencing of the proband and his parents revealed a maternally inherited novel variant in HCFC1 designated as c.1781_1803 + 3del26insCA (NM_005334). Targeted testing confirmed the presence of the same variant in two half-siblings and maternal great uncle. In silico analysis showed that the variant is expected to reduce the quality of the splice donor site in intron 10 and causes abnormal splicing. Sequencing of proband's cDNA revealed exon 10 skipping. Further molecular studies in the two manifesting females revealed moderate and high skewing of X inactivation. Our results support previous observation that HCFC1 variants located outside the Kelch domain exhibit dissociation of the clinical and biochemical phenotype and cause milder or no metabolic changes. We also show that this novel variant can be associated with a phenotype in females, although with milder severity, but further studies are needed to understand the role of skewed X inactivation among females in this rare disorder. Our work expands the genotypes and phenotypes associated with HCFC1-related disorder.

Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Exome Sequencing; Exons; Female; Gene Expression Regulation; Genetic Association Studies; Genetic Diseases, X-Linked; Genetic Predisposition to Disease; Host Cell Factor C1; Humans; Infant; Intellectual Disability; Introns; Male; Maternal Inheritance; Middle Aged; Mutation; Pedigree; Phenotype; RNA Splice Sites; RNA Splicing; Vitamin B 12; X Chromosome Inactivation

The absorption of vitamin B

Topics: Adult; Cross-Sectional Studies; Enteral Nutrition; Female; Folic Acid; Humans; Intellectual Disability; Jejunum; Male; Middle Aged; Motor Disorders; Stomach; Vitamin B 12; Vitamin B 6

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients.. Clinical, biochemical and treatment data was obtained from physicians by using a questionnaire. MTHFR activity was measured in primary fibroblasts; genomic DNA was extracted from cultured fibroblasts.. Thirty-three patients (mean age at follow-up 11.4 years; four deceased; median age at first presentation 5 weeks; 17 females) were included. Patients with very low (<1.5%) mean control values of enzyme activity (n = 14) presented earlier and with a pattern of feeding problems, encephalopathy, muscular hypotonia, neurocognitive impairment, apnoea, hydrocephalus, microcephaly and epilepsy. Patients with higher (>1.7-34.8%) residual enzyme activity had mainly psychiatric symptoms, mental retardation, myelopathy, ataxia and spasticity. Treatment with various combinations of betaine, methionine, folate and cobalamin improved the biochemical and clinical phenotype. During the disease course, patients with very low enzyme activity showed a progression of feeding problems, neurological symptoms, mental retardation, and psychiatric disease while in patients with higher residual enzyme activity, myelopathy, ataxia and spasticity increased. All other symptoms remained stable or improved in both groups upon treatment as did brain imaging in some cases. No clear genotype-phenotype correlation was obvious.. MTHFR deficiency is a severe disease primarily affecting the central nervous system. Age at presentation and clinical pattern are correlated with residual enzyme activity. Treatment alleviates biochemical abnormalities and clinical symptoms partially.

Topics: Ataxia; Betaine; Child; Female; Folic Acid; Genetic Association Studies; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Mutation; Phenotype; Psychotic Disorders; Retrospective Studies; Spinal Cord Diseases; Vitamin B 12

To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation.. Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, n = 83), and glutaric aciduria type 1 (GA1, n = 176). Statistical analysis included description and recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. For some analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO).. Patients identified by newborn screening (NBS) had a significantly lower median age of diagnosis (8 days) compared to the LO group (363 days, p < 0.001], but not compared to the EO group. Of all OAD patients 71 % remained asymptomatic until day 8. Patients with cobalamin-nonresponsive MMA (MMA-Cbl(-)) and GA1 identified by NBS were less likely to have movement disorders than those diagnosed by selective screening (MMA-Cbl(-): 10 % versus 39 %, p = 0.002; GA1: 26 % versus 73 %, p < 0.001). For other OADs, the clinical benefit of NBS was less clear. Reported age-adjusted intake of natural protein and calories was significantly higher in LO patients than in EO patients reflecting different disease severities. Variable drug combinations, ranging from 12 in MMA-Cbl(-) to two in isovaleric aciduria, were used for maintenance treatment. The effects of specific metabolic treatment strategies on the health outcomes remain unclear because of the strong influences of age at onset (EO versus LO), diagnostic mode (NBS versus selective screening), and the various treatment combinations used.. NBS is an effective intervention to reduce time until diagnosis especially for LO patients and to prevent irreversible cerebral damage in GA1 and MMA-Cbl(-). Huge diversity of therapeutic interventions hampers our understanding of optimal treatment.

Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Disorders, Inborn; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Female; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Metabolic Diseases; Methylmalonic Acid; Middle Aged; Neonatal Screening; Vitamin B 12; Young Adult

Topics: Adult; Anus, Imperforate; Ectodermal Dysplasia; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Intellectual Disability; Male; Nose; Pancreatic Diseases; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult

Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs. We report on a cblC patient diagnosed in the newborn age who developed nearly normal during the first year of life. During an upper respiratory tract infection with severe hyperpyrexia at the age of 14months he developed an acute encephalopathic crisis resulting in severe mental retardation and marked internal and external cerebral atrophy. Hyperacute encephalopathic crises have not been observed so far in patients with cblC defect. It remains unclear, if this association is incidental or if the underlying metabolic defect may have predisposed the brain tissue to hyperpyrexia-induced damage.

Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Fever; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Neurodegenerative Diseases; Oxidoreductases; Vitamin B 12; Vitamin B 12 Deficiency

We aimed to investigate the presence of psychomotor retardation, physical and laboratory examination in infants with megaloblastic anemia. Inclusion criteria for the study were; age 9 to 36 months, refusal of food except for breast and cow milk, loss of appetite, developmental delay, significant pallor, and hypersegmentation neutrophils in the peripheral blood smear. A total of 33 children fulfilling the inclusion criteria were enrolled among 3368 patients attending Pediatric Outpatient Clinics of şirnak-Cizre State Hospital between January 25, 2004 and May 5, 2004. Mean age was 16.4 months. Thirty-two patients had Vitamin B12 deficiency, 1 patient had folate deficiency, and 10 patients had combined vitamin B12 and folate deficiency. Statistically, a positive significant relationship was detected between serum vitamin B12 levels and mean corpuscular volume (P = 0.001, r = 0.56), and between vitamin B12 levels and hemoglobin (P = 0.004, r = 0.49). We believe that preventative measures such as fortification of flour with vitamin B12, nutritional support with vitamin B12 for the mother during pregnancy and nursing, provision of adequate primary preventive health services, and starting complementary food after 6 months of age are important determinants for preventing megaloblastic anemia.

Topics: Anemia, Megaloblastic; Child, Preschool; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant; Intellectual Disability; Male; Motor Skills Disorders; Neutrophils; Turkey; Vitamin B 12; Vitamin B 12 Deficiency

The goal of this study was to determine the prevalence of vitamin B12 deficiency among intellectually disabled persons in a vegetarian remedial community in Israel. In this community, 47 individuals with intellectual disability (ID) live in 7 enlarged families in a kibbutz style agricultural setting. These 47 individuals and 17 of their caregivers were screened for vitamin B12 deficiency. There were 25.5% of the disabled vs. 11.8% of the caregivers found to have levels of vitamin B12 lower than 157 pg/ml. It is concluded that persons with ID in this vegetarian residential care community seemed to be at a higher risk for vitamin B12 deficiency.

Topics: Adult; Caregivers; Diet, Vegetarian; Female; Humans; Intellectual Disability; Israel; Male; Middle Aged; Pilot Projects; Residential Facilities; Risk Factors; Vitamin B 12; Vitamin B 12 Deficiency

The early onset type of cobalamin (Cbl) C/D deficiency is characterised by feeding difficulties, failure to thrive, hypotonia, seizures, microcephaly and developmental delay. It has an unfavourable outcome, often with early death and significant neurological impairment in survivors. While clinical and biochemical features of Cbl C/D deficiency are well known, only a few isolated case reports are available concerning neurophysiological and neuroimaging findings. We carried out clinical, biochemical, neurophysiological and neuroradiologic investigations in 14 cases with early-onset of the Cbl CID defect. Mental retardation was identified in most of the cases. A variable degree of supratentorial white matter atrophy was detected in 11 cases by MR imaging and tetraventricular hydrocephalus was present in the remaining 3 patients. Waking EEG showed a clear prevalence of epileptiform abnormalities, possibly related to the high incidence of seizures in these cases. Increased latency of evoked responses and/or prolongation of central conduction time were the most significant neurophysiological abnormalities. The selective white matter involvement, shown both by neuroradiologic and neurophysiological studies, seems to be the most consistent finding of Cbl C/D deficiency and may be related to a reduced supply of methyl groups, possibly caused by the dysfunction in the methyl-transfer pathway.

Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Cobamides; Cytosol; Electroencephalography; Evoked Potentials; Female; Follow-Up Studies; Homocystinuria; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Seizures; Vitamin B 12; Vitamin B 12 Deficiency

Thirty-four symptomatic cases of inherited transcobalamin II (TCII) deficiency were analysed in order to determine the frequency and nature of neurologic manifestations. In no instance was there definite evidence of a neurologic disorder at the time of presentation as a young infant. One child of 2 1/2 years transiently lost deep tendon reflexes at a time of suboptimal treatment. A syndrome of mental retardation and other neurologic manifestations was observed in three cases, all with the following in common: (1) an extended duration of illness of 2-17 years; (2) inadequate or not treatment with Cbl; (3) treatment with folic of folinic acid. TCII deficiency rarely if ever presents with neurologic manifestations. However, neurologic disorders can be produced subsequently by improper treatment.

Topics: Central Nervous System Diseases; Folic Acid; Humans; Infant; Infant, Newborn; Intellectual Disability; Leucovorin; Nervous System Diseases; Time Factors; Transcobalamins; Vitamin B 12

Two groups of mentally handicapped residents were studied consisting of 32 epileptics on anti-epileptic medication and 32 non-epileptic controls. The epileptic group showed a significantly low serum folate level compared with the non-epileptic control group. Serum vitamin B12 and behaviour rating did not show any significant difference between two groups. Comparison of patients receiving phenytoin and those who were not showed significantly lower serum folate in the sub-group receiving phenytoin, but there was no significant difference between the sub-groups with respect to vitamin B12 or behaviour problem rating.

Topics: Adolescent; Adult; Aged; Epilepsy; Female; Folic Acid; Humans; Intellectual Disability; Male; Mental Disorders; Middle Aged; Phenytoin; Vitamin B 12

Topics: Adult; Cytogenetics; Folic Acid; Fragile X Syndrome; Humans; Intellectual Disability; Male; Psychological Tests; Sex Chromosome Aberrations; Testis; Vitamin B 12

Topics: Folic Acid; Fragile X Syndrome; Humans; Intellectual Disability; Sex Chromosome Aberrations; Trimethoprim; Vitamin B 12

Topics: Adolescent; Adult; Chromosome Fragility; Female; Folic Acid; Humans; Intellectual Disability; Leucovorin; Male; Sex Chromosome Aberrations; Vitamin B 12

Giant axonal neuropathy in two siblings was reported. The fact that two cases are found in the same family supports this disorder is genetically determined and recessively inherited. These two cases, similar to the cases reported in literature, had chronic peripheral neuropathy and CNS symptoms, and also petit mal absence and mental retardation in elder sister (case 1) and precocious puberty in younger sister (case 2). Sural nerve biopsies in both cases disclosed axonal swellings or giant axons filled with aggregated neurofilaments, and that aggregated intermediate-sized filaments were found within cytoplasm of Schwann cells, endothelial cells of intra and extra-neurial capillaries and of extra-neurial arterioles, perineurial cells and endoneurial fibroblasts. Skin biopsies in both cases disclosed that aggregated intermediate-sized filaments were also found within cytoplasm of fibroblasts, Langerhans' cells, melanocytes and endothelial cells of capillaries, lymphatic vessels and arterioles. The diagnosis of giant axonal neuropathy can be made only by the findings in skin biopsy.

Topics: Adolescent; Axons; Child; Cytoskeleton; Epilepsy, Absence; Female; Humans; Intellectual Disability; Nervous System Diseases; Puberty, Precocious; Schwann Cells; Sural Nerve; Vitamin B 12

The case is described of a child, age 6 1/2 years, with retarded mental development, mild neurological signs and abnormal metabolism of sulphur-containing amino acids and methylmalonate, due to an inborn error in the formation of vitamin B12 coenzymes. The patient was treated for almost three years with hydroxycobalamin, folic acid, pyridoxine and choline. Though physical growth was normal, she continued to demonstrate a moderate degree of mental retardation. A brother of the patient died at the age of 5 years, probably of a similar, but undiagnosed, disorder. As far as we are aware there are only four other reported cases similar to the case described here. Two of these patients died and in other other two the defect was so mild that no treatment was necessary and who, in fact, showed appreciable improvement during the follow-up period, which to date amounts to 3 years and 3 months. For reasons detailed in the discussion, it is suggested that the diagnosis of homocystinuria is not complete until studies of folate and vitamin B12 metabolism are undertaken at the same time, so as to identify the metabolic defect(s) responsible for the condition.

Topics: Child, Preschool; Female; Humans; Intellectual Disability; Metabolism, Inborn Errors; Vitamin B 12

Exposure of animals to drugs which induce hepatic enzymes results in an acceleration of hydroxylation of endogenous as well as exogenous steroid hormones (Conney, A.H., Pharma. 19 [1967] 317). Fahim et al. in a two part study, noticed when phenobarbital was administered to sexually mature male rats, it accelerated the metabolism of androgen as reflected by significant reductions in weight and RNA content of male accessory organs [3]; it was also observed that vitamin B 12 is an enzyme inducer [2]. Currently we observed a significant synergism between vitamin B 12 and phenobarbital in acceleration of drug metabolizing enzymes in rats. This demonstration of drug-steroid interaction reinforces the possibility of utilizing such phenomena as therapeutic modalities for human reproductive syndromes associated with overprodduction of sex hormones. This was applied in a young 16 year old mildly retarded male who was having much difficulty coping with sexual urges. His serum testosterone level was 960 ng%, which is abnormally high for his age. The patient was treated with 30 mg phenobarbital, morning and evening, and 50 mcg vitamin B 12 daily. After three months of treatment, his testosterone level decreased significantly to 620 ng%, and his hypersexualized behavior with girls had completely dropped out. There were no side effects in his physical appearance or general health. This therapy encourages its utilisation in humans with androgen overproduction instead of utilizing estrogen or other drugs which may have side effects.

Topics: Adolescent; Androgens; Female; Humans; Hydroxylation; Intellectual Disability; Male; Microsomes, Liver; Phenobarbital; Sexual Dysfunction, Physiological; Testosterone; Vitamin B 12

Topics: Amino Acid Isomerases; Amino Acids; Anemia, Macrocytic; Autopsy; Brain; Brain Chemistry; Cells, Cultured; Child; Culture Media; Fibroblasts; Homocysteine; Humans; Intellectual Disability; Liver; Lung; Lyases; Malonates; Metabolism, Inborn Errors; Methionine; Spleen; Vitamin B 12

Topics: Adolescent; Adult; Anticonvulsants; Azo Compounds; Child; Epilepsy; Female; FIGLU Test; Folic Acid; Glutarates; Histidine; Humans; Intellectual Disability; Male; Neutrophils; Phenytoin; Vitamin B 12

Topics: Aged; Anemia, Macrocytic; Blind Loop Syndrome; Hospitals, Psychiatric; Humans; Intellectual Disability; Male; Nutrition Disorders; Polycythemia; Vitamin B 12

Topics: Adolescent; Anemia, Macrocytic; Blood Transfusion; Child; Female; Folic Acid; Humans; Intellectual Disability; Phenytoin; Vitamin B 12

Topics: Amino Acid Metabolism, Inborn Errors; Glucose; Humans; Intellectual Disability; Malonates; Vitamin B 12

Topics: Body Weight; Brain Diseases; Child, Preschool; Electroencephalography; Folic Acid; Humans; Hypoglycemia; Infant; Infant, Newborn; Infant, Premature; Intellectual Disability; Malabsorption Syndromes; Male; Radiography; Stomach; Vitamin B 12

Folate deficiency in 50 epileptic children aged 5 to 18 years was treated with a combination of folic acid and vitamin B(12). Improvement in mental condition occurred from five to eight weeks after beginning treatment in some of the younger children; no change was noticed, however, in 31. Similarly, in 19 children fits became less frequent and less severe. It is recommended that both folic acid and vitamin B(12) should be given as soon as a patient is started on anticonvulsant drugs to prevent mental deterioration.

Topics: Adolescent; Anticonvulsants; Child; Child, Preschool; Epilepsy; Female; Folic Acid; Folic Acid Deficiency; Humans; Intellectual Disability; Male; Vitamin B 12

Topics: Adenine; Allopurinol; Athetosis; Bone Marrow; Carbon Isotopes; Child; Child, Preschool; Chorea; Compulsive Behavior; Diet Therapy; Erythrocytes; Folic Acid; Glycine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Movement Disorders; Purines; Self Mutilation; Transferases; Uric Acid; Vitamin B 12

Topics: Aged; Alcoholism; Australia; Blood Cell Count; Blood Sedimentation; Female; Folic Acid; Folic Acid Deficiency; Hematocrit; Hemoglobinometry; Humans; Intellectual Disability; Male; Mental Disorders; Middle Aged; Substance-Related Disorders; Vitamin B 12

Topics: Child; Electroencephalography; Folic Acid; Galvanic Skin Response; Humans; Intellectual Disability; Memory Disorders; Orotic Acid; Personality Disorders; Vitamin B 12

Topics: Anemia, Macrocytic; Child; Child, Preschool; Female; Hair; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Pigmentation Disorders; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Genes, Recessive; Glycine; Hepatomegaly; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Malonates; Pedigree; Vitamin B 12; Vomiting

Topics: Amino Acid Metabolism, Inborn Errors; Diet; Dietary Proteins; Glycine; Humans; Infant; Infant, Newborn; Intellectual Disability; Isoleucine; Isomerases; Leucine; Male; Malonates; Valine; Vitamin B 12

Topics: Adolescent; Amino Acids; Arginine; Child; Female; Glutamine; Humans; Intellectual Disability; Male; Serine; Threonine; Tryptophan; Vitamin B 12

Topics: Acidosis; False Positive Reactions; Humans; Intellectual Disability; Malonates; Vitamin B 12

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Coenzyme A; Dietary Proteins; Glycine; Humans; Infant; Intellectual Disability; Isomerases; Ketone Bodies; Ligases; Male; Malonates; Vitamin B 12

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Coenzyme A; Glycine; Humans; Infant; Intellectual Disability; Ketone Bodies; Male; Malonates; Vitamin B 12

Topics: Anemia, Macrocytic; Anemia, Pernicious; Body Height; Body Weight; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Female; Genes, Recessive; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Intrinsic Factor; Male; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Age Factors; Anemia, Macrocytic; Anticonvulsants; Brain; Epilepsy; Female; Folic Acid; Folic Acid Deficiency; Humans; Intellectual Disability; Male; Mental Disorders; Peripheral Nerves; Phenobarbital; Phenytoin; Primidone; Psychotic Disorders; Sex Factors; Spinal Cord; Vitamin B 12

Topics: Anemia; Anemia, Sideroblastic; Blood Transfusion; Diabetes Insipidus; Humans; Infant, Newborn; Intellectual Disability; Male; Pyridoxine; Renal Aminoacidurias; Vitamin B 12

Topics: Anemia, Macrocytic; Erythropoiesis; Hemoglobins; Humans; Infant; Intellectual Disability; Milk, Human; Pigmentation Disorders; Reticulocytes; Vitamin B 12

Topics: Adult; Aged; Anemia, Macrocytic; Biological Assay; Blood Proteins; Bone Marrow Examination; Cerebral Ventriculography; Child; Child, Preschool; Dietary Fats; Electroencephalography; Erythrocytes; Female; FIGLU Test; Folic Acid; Humans; Hydrolases; Infant; Intellectual Disability; Intestinal Absorption; Liver; Liver Function Tests; Male; Metabolism, Inborn Errors; Middle Aged; Oxidoreductases; Transferases; Vitamin B 12; Xylose

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