Cobalamin A Deficiency

Cobalamin A (CblA) and Cobalamin B (CblB) deficiency are two genetic defects which result in deficiency of Adenosylcobalamin (AdoCbl). Ado Cbl acts as a cofactor of Methylmalonyl-CoA mutase and its deficiency thus causes a phenotype resembling that of Methylmalonic aciduria (MMA). CblA or CblB deficiency usually cause an intermediate phenotype of MMA with the first metabolic crisis occurring in the first few months or years of life. Typically in these intermediate forms, clinical evidence of disease is not present before the first episode of vomiting, dehydration, lethargy, or coma which occurs after the newborn period, during or after the first year of life.

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