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3-methylglutaconic aciduria type 1
rare3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
- Identifiers
- MONDO:0009610 OMIM:250950Orphanet:67046
- Causal genes
- AUH
- Part of
- 3-methylglutaconic aciduria
- Also known as
- 3 alpha methylglutaconic aciduria type I · 3 methylglutaconic aciduria type 1 · 3 methylglutaconyl CoA hydratase deficiency · 3-methylglutaconic aciduria caused by mutation in AUH · 3-METHYLGLUTACONIC aciduria, type I
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