vitamin-b-12 and Coma

The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin. Regarding the enzymatic defect, there are two forms: mut(o) with no detectable enzymatic activity and mut(-) with reduced activity. Its clinical presentation may vary from a severe neonatal form with acidosis and death, up to a progressive chronic form. Here we describe the case of a four year-old boy, with diagnosis of methylmalonyl-CoA mutase deficiency type mut(-) with an acute presentation. Molecular analysis of MUT gene identified two mutations c.607G>A (G203R) and c.2080C>T (R694W), later confirmed in the parents. The aim of this report is to highlight the importance of including the organic acid analysis in urine among the first line exams in acutely and severely ill children with undefined etiology. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the secuelae.

Topics: Acidosis; Amino Acid Substitution; Child, Preschool; Coma; Diet, Protein-Restricted; Diseases in Twins; Fertilization in Vitro; Genes, Recessive; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation, Missense; Point Mutation; Twins, Dizygotic; Vitamin B 12; Vomiting

A 23-year-old woman with pernicious anemia, previously treated with folic acid, demonstrated an unusually rapid and severe course of neurologic deterioration. She was first seen with coma, myelopathy, and peripheral neuropathy. Her EEG showed repetitive nonperiodic suppression bursts, probably related to the severe impairment of consciousness. A sural nerve biopsy specimen revealed prominent axonal degeneration. With cyanocobalamin treatment, she regained normal mentation and the use of the upper limbs. She remains paraplegic, however, with a T10 sensory level.

Topics: Adult; Axons; Biopsy; Coma; Electroencephalography; Female; Folic Acid; Humans; Nerve Degeneration; Sural Nerve; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anaphylaxis; Coma; Humans; Injections, Intramuscular; Male; Middle Aged; Vitamin B 12

Topics: Aged; Anemia, Pernicious; Coma; Female; Humans; Vitamin B 12

Topics: Brain; Cerebrovascular Circulation; Classification; Coma; Corrinoids; Humans; Metabolism; Oxidative Phosphorylation; Physiology; Vitamin B 12

Topics: Coma; Corrinoids; Geriatrics; Humans; Hypothermia; Myxedema; Thyroid Hormones; Vitamin B 12