vitamin-b-12 and Brain-Damage--Chronic

Topics: Acneiform Eruptions; Adapalene; Adult; Benzoyl Peroxide; Brain Damage, Chronic; Brain Injuries; Clindamycin; Drug Therapy, Combination; Facial Dermatoses; Female; Humans; Lymecycline; Male; Naphthalenes; Vitamin B 12

We have identified a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the cb1C type mutant. At the time of admission at eight months of age the patient was malnourished, hypotonic and had macrocytic anemia. Neonatal screening for hypermethioninemia associated with homocystinuria had been normal. Serum vitamin B12 was markedly increased and folate concentration was above normal, as were urinary homocystine and methylmalonic acid. The patient had abnormal brain stem auditory and visual evoked potentials. Fibroblast activity of N5-methyltetrahydrofolate: homocysteine methyltransferase was reduced to approximately 10% of concurrent controls. A course of therapy with hydroxocobalamin resulted in a 90% reduction in excretion of methylmalonic acid and normalization of the evoked potentials. These studies support the efficacy of hydroxocobalamin therapy in this disease, suggest that methylmalonic acid may be the most appropriate metabolite to monitor for therapeutic response, and in importance of electrophysiologic studies in character in objectively monitoring the response to treatment metabolic disease.

Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Brain Damage, Chronic; Follow-Up Studies; Hemoglobinometry; Homocystinuria; Humans; Infant; Male; Malonates; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Vitamin B 12

A case of the exclusively breast-fed infant of a vegetarian mother is reported. Neurological deterioration commenced between three and six months of age, and progressed to a comatose premoribund state by the age of nine months. Investigations revealed a mild nutritional vitamin B12 deficiency in the mother, and a very severe nutritional B12 deficiency in the infant, with severe megaloblastic anaemia. Treatment of the infant with vitamin B12 resulted in a rapid clinical and haematological improvement, but neurological recovery was incomplete. Evidence is presented that dietary B12 deficiency was the sole cause of the infant's deterioration, and the literature relating to the condition is reviewed. It is recommended that all strict vegetarians (vegans), especially women in the child-bearing age group, take vitamin B12 supplements.

Topics: Anemia, Megaloblastic; Brain Damage, Chronic; Diet, Vegetarian; Female; Humans; Infant; Male; Neurologic Manifestations; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Brain Damage, Chronic; Child; Humans; Hydroxocobalamin; Vitamin B 12