hydroxocobalamin and Malabsorption-Syndromes

Prospective studies on maintenance treatment for Beagles with hereditary selective cobalamin (Cbl) malabsorption (Imerslund-Gräsbeck syndrome, IGS) are lacking. In our experience, measurement of methylmalonic acid (MMA), a Cbl-dependent metabolite, seems more helpful to monitor Cbl status as compared with serum Cbl concentrations.. To evaluate a standardized Cbl supplementation scheme in Beagles with IGS. We hypothesized that a single parenteral dose of 1 mg hydroxocobalamin (OH-Cbl) would maintain clinical and metabolic remission for up to 2 months.. Six client-owned juvenile Beagles with genetically confirmed IGS and 28 healthy control dogs.. Prospective study. Monthly IM OH-Cbl (1 mg) supplementation was done over a median of 9 months (range, 6-13) in 6 dogs, followed by bimonthly (every 2 months) injections in 5 dogs over a median of 6 months (range, 3-10). Health status was assessed by routine clinical examinations at injection time points and owner observations. Voided urine samples were collected immediately before OH-Cbl injections for measurement of MMA-to-creatinine concentrations using a gas-liquid chromatography-tandem mass spectrometry (GC-MS) method.. All dogs were clinically healthy while receiving monthly and bimonthly OH-Cbl supplementation. Urinary MMA results in healthy dogs ranged from 1.3 to 76.5 mmol/mol creatinine (median, 2.9). Median urinary MMA concentrations did not differ between dogs with IGS receiving monthly (n = 49; 5.3 mmol/mol creatinine; range, 2.3-50.4) and bimonthly (n = 31; 5.3 mmol/mol creatinine; range, 1.6-50) injections.. A maintenance parenteral dose of 1 mg OH-Cbl monthly or bimonthly appears adequate in Beagles with IGS monitored by metabolic testing.

Topics: Anemia, Megaloblastic; Animals; Creatinine; Dog Diseases; Dogs; Drug Administration Schedule; Female; Hydroxocobalamin; Injections, Intramuscular; Malabsorption Syndromes; Male; Methylmalonic Acid; Prospective Studies; Proteinuria; Vitamin B 12; Vitamin B 12 Deficiency

According to the ADA guidelines, metformin and lifestyle modifications are the first line therapies in the treatment of type 2 diabetes mellitus. Metformin does, however, cause vitamin B-12 malabsorption, which may increase the risk of developing vitamin B-12 deficiency--a clinically important and treatable condition. Here we report a case of 60 year old diabetic male presenting with clinical features of Vitamin B-12 deficiency on long term metformin therapy, which was confirmed on investigations. Patient showed symptomatic improvement with change in treatment.

Topics: Diabetes Mellitus, Type 2; Humans; Hydroxocobalamin; Hypoglycemic Agents; Malabsorption Syndromes; Male; Metformin; Middle Aged; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine. Propionylcarnitine is included in tandem mass spectrometry-based newborn screening programs for detection of certain inborn errors of metabolism. We report two asymptomatic newborns with Vitamin B12 deficiency due to maternal deficiencies. One was detected incidentally at 3 weeks of age; the second on supplemental newborn screening based on elevated Propionylcarnitine at 2 days of age. This illustrates the potential for false negative results for Vitamin B12 deficiency screening by acylcarnitine profiling in newborn screening. Homocysteine and Methylmalonic acid may be better markers of Vitamin B12 deficiency. In conclusion, we suggest measuring Methylmalonic acid, Propionylcarnitine and Homocysteine levels in blood spots in expanded newborn screening in order to detect asymptomatic newborns with Vitamin B12 deficiency. Further studies are needed to establish the sensitivity of these three markers in screening for Vitamin B12 deficiency.

Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anemia, Pernicious; Autoimmune Diseases; Biomarkers; Carnitine; Citrates; Cystathionine; False Negative Reactions; Female; Gastric Bypass; Heterozygote; Homocysteine; Humans; Hydroxocobalamin; Infant Food; Infant, Newborn; Malabsorption Syndromes; Male; Mass Spectrometry; Maternal-Fetal Exchange; Methylmalonic Acid; Neonatal Screening; Pregnancy; Pregnancy Complications; Vitamin B 12 Deficiency

In chronic atrophic gastritis atrophy of the stomach glands leads to intrinsic factor deficit, with consequent failure to absorb vitamin B12 and gastric achylia, which predisposes to Giardia infection which in itself leads to depletion of vitamin B12. We describe the case of a patient with peripheral and central nervous system pathology due to lack of vitamin B12 secondary to the combined effect of these two disorders.. A 54 year old woman consulted us for paraesthesia and weakness of the legs which had been progressive for the previous two years. She presented with tactile hypoaesthesia, hypoparaesthesia, distal hyperreflexia and dysymmetry of the legs, ataxic-spastic gait and a positive Romberg sign. The investigations carried out showed the serum vitamin B12 level to be 3 pg/ml (N: 180-900), hemoglobin 13 g/dl and MCV 111 fl with MCHC 348/dl; neurophysiological studies: compatible with demyelinating motor polyneuropathy. Schilling test: deficit of absorption of vitamin B12 which was corrected on administration of intrinsic factor; gastroscopy; atrophic gastritis which confirmed the morbid anatomy findings. There was also flora containing Helicobacter and massive Giardia infection. Replacement and antibiotic therapy was followed by complete remission of the clinical picture.. We emphasize the excellent clinical response to treatment in spite of the time elapsed since onset of symptoms.

Topics: Amoxicillin; Anemia, Pernicious; Anti-Bacterial Agents; Antiprotozoal Agents; Bismuth; Duodenitis; Enzyme Inhibitors; Evoked Potentials, Somatosensory; Female; Gastritis, Atrophic; Giardiasis; Helicobacter Infections; Helicobacter pylori; Humans; Hydroxocobalamin; Malabsorption Syndromes; Metronidazole; Middle Aged; Neural Conduction; Omeprazole; Peripheral Nervous System Diseases; Remission Induction; Vitamin B 12 Deficiency

Gross neuropathy consequent upon selective malabsorption of vitamin B12 was diagnosed in a 6 year old Bangladeshi girl brought to Great Britain for further investigation of an unexplained illness of three years' duration. The initial peripheral blood count was normal. Treatment with vitamin B12 has led to substantial recovery.

Topics: Child; Female; Humans; Hydroxocobalamin; Malabsorption Syndromes; Nervous System Diseases; Vitamin B 12 Deficiency

A 17-year-old boy with vitamin B12 deficiency that occurred after a small bowel resection developed bilateral centrocecal scotomas during folic acid therapy and improved on therapy including vitamin B complex.

Topics: Adolescent; Folic Acid; Gangrene; Humans; Hydroxocobalamin; Infectious Mononucleosis; Intestine, Small; Malabsorption Syndromes; Male; Optic Nerve Diseases; Postoperative Complications; Scotoma; Vitamin B 12; Vitamin B 12 Deficiency

Five patients presenting clinically with a form B12-deficiency neuromyelopathy, with cord involvement in all and proximal muscle weakness in two of them, were investigated for their neurologic, hematologic and vitamin status. Megaloblastosis and achlorhydria were present in all, and impaired absorption of 57Co vitamin B12 and of D-xylose was detected in four. Total cyanide extracted vitamin B12 (A) was lowered in all cases and noncyanide extractable (B) in four of the five, being zero in three. All five responded to injections of hydroxocobalamin. In two patients sequential estimations showed that both A and B, especially the latter, rose steeply initially, normalizing at 50% of A after some weeks. Moiety B is suggested to be physiologically the more active and dissociable form of vitamin B12. Markedly elevated initial serum folate levels, and their subsequent fall under treatment with B12, indicated the operation of the "methyltetrahydrofolate trap". Blood levels of thiamin, nicotinic acid and pantothenic acid were within normal limits. However, serum riboflavin (B2) total vitamin B6 and pyridoxal were reduced in all where tested. Vitamin B6 deficiency could have resulted from its own malabsorption and have contributed to be B12 deficiency. Vitamin B2 and B6 levels also corrected themselves on B12 therapy. The B-vitamin deficiencies in our patients probably resulted from intestinal malabsorption, with a possible factor of malnutrition consequent to their strictly vegetarian diet.

Topics: Achlorhydria; Adolescent; Adult; Animals; Demyelinating Diseases; Diet, Vegetarian; Erythrocyte Count; Humans; Hydroxocobalamin; Malabsorption Syndromes; Male; Megaloblasts; Milk; Spinal Cord Diseases; Vitamin B 12 Deficiency; Vitamin B 6 Deficiency; Vitamin B Complex