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Methylmalonic aciduria, cblA type
rareAn autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.
- Identifiers
- MONDO:0009613 OMIM:251100Orphanet:79310
- Causal genes
- MMAA
- Also known as
- cobalamin A disease · cobalamin B disease · methylmalonic acidemia cblA type · methylmalonic acidemia, cblA type · methylmalonic aciduria cblA type
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