methylmalonic acidemia
Inherited disorder of organic acid metabolism causing accumulation of methylmalonic acid.
Full Definition
A group of autosomal recessive disorders affecting the metabolism of certain amino acids and fatty acids, leading to accumulation of methylmalonic acid and other toxic metabolites. The condition results from deficiency in methylmalonyl-CoA mutase or its cofactor, vitamin B12. Newborn screening detects this condition through elevated propionylcarnitine (C3) levels. Untreated methylmalonic acidemia can cause metabolic acidosis, developmental delays, and organ damage. Treatment may include dietary protein restriction, vitamin B12 supplementation, and specialized medical management.
Usage
Usage note: Use 'acidemia' (in blood) rather than 'aciduria' (in urine) for the primary condition name.
In Context
- "Elevated C3 carnitine levels raised suspicion for methylmalonic acidemia requiring urine organic acid analysis." — Diagnostic workup protocol
- "Methylmalonic acidemia management includes protein restriction and B12 cofactor supplementation." — Treatment guidelines