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  2. Methylmalonic aciduria and homocystinuria

Methylmalonic aciduria and homocystinuria

Definition:

Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary metabolism, and its defects lead to the accumulation of methylmalonic acid and/or homocysteine in blood and urine. Affected persons present with multisystem clinical abnormalities, including developmental, hematologic, neurologic, and metabolic findings.

Biomedical Dictionary

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