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methylmalonic acidemia/aciduria
Etiology:
1) methylmalonyl CoA mutase (MUT) deficiency
2) methylmalonic aciduria type A protein (MMAA) deficiency
3) methylmalonic aciduria type B protein (MMAB)deficiency
4) 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:
1) some forms benign, others fatal in infancy
2) developmental delay
3) renal insufficiency common
4) depending upon severity, features may include lethargy, vomiting, failure to thrive, hypotonia, neurological deficits, early death
Laboratory: metabolic acidosis
Management:
- some forms may be responsive to vitamin B12 administration
Related
methylmalonic aciduria type A protein, mitochondrial (MMAA)
Specific
methylmalonic aciduria & homocystinuria
General
branched-chain organic aciduria
Database Correlations
OMIM correlations
References
OMIM :accession 251000