Methylmalonic acidemia with homocystinuria, type cblD

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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 March 2024

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Methylmalonic acidemia with homocystinuria, type cblD?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

Clinical Trials

For a list of clinical trials in this disease area, please click here.