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Methylmalonic aciduria and homocystinuria type cblD
rareA form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
- Identifiers
- MONDO:0010185 OMIM:277410Orphanet:79283
- Causal genes
- MMADHC
- Part of
- Methylmalonic aciduria and homocystinuriaMethylmalonic aciduria and/or homocystinuria, cblD type
- Also known as
- cblD defect · cobalamin D defect · cobalamin d disease · combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD · homocystinuria, cblD type, variant 1, included
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