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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Methylmalonic acidemia with homocystinuria, type cblD?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
HCU Network America
HCU Network America strives to inform and provide resources for patients and families, create connections, influence state and federal policy, and support the advancement of diagnosis and treatment for HCU and related disorders.
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