Methylmalonic acidemia with homocystinuria, type cblD
Synonyms: CblD defect | Cobalamin D defect | Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD | Methylmalonic aciduria with homocystinuria, type cblD
cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term) an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical neurological and hematological manifestations.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Methylmalonic acidemia with homocystinuria, type cblD?
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