methylmalonic acidemia/aciduria
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Etiology
- methylmalonyl CoA mutase (MUT) deficiency
- methylmalonic aciduria type A protein (MMAA) deficiency
- methylmalonic aciduria type B protein (MMAB)deficiency
- methylmalonic aciduria & homocystinuria type C protein deficiency (see methylmalonic aciduria & homocystinuria)
Genetics
- autosomal recessive
- associated with defects in MUT
- associated with defects in MMAA
- associated with defects in MMAB
Clinical manifestations
- some forms benign, others fatal in infancy
- developmental delay
- renal insufficiency common
- depending upon severity, features may include lethargy, vomiting, failure to thrive, hypotonia, neurological deficits, early death
Laboratory
Management
- some forms may be responsive to vitamin B12 administration