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Methylmalonic aciduria, cblB type
rareAn autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
- Identifiers
- MONDO:0009614 OMIM:251110Orphanet:79311
- Causal genes
- MMAB
- Also known as
- methylmalonic acidemia cblB type · methylmalonic acidemia, cblB type · methylmalonic aciduria, vitamin B12-responsive, cblB type · vitamin B12-responsive methylmalonic acidemia type cblB · vitamin B12-responsive methylmalonic aciduria, type cblB
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