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Methylmalonic aciduria and homocystinuria
rareAn inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
- Identifiers
- MONDO:0016826 Orphanet:26
- Part of
- Classic organic aciduriaHereditary anemiaHomocystinuriaInborn disorder of cobalamin metabolism and transportMethylmalonic acidemia
- Also known as
- combined defect in adenosylcobalamin and methylcobalamin synthesis · methylmalonic acidemia and homocystinemia · methylmalonic aciduria with homocystinuria
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