Methylmalonic acidemia with homocystinuria, type cblC
Other Names for this Disease
- CblC defect
- Cobalamin C defect
- Cobalamin C disease
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
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- Methylmalonic Acidemia with Homocystinuria. Screening, Technology and Research in Genetics (STAR-G). http://www.newbornscreening.info/Parents/organicaciddisorders/MMA_HCU.html. Accessed 6/11/2014.
- Genetics Home Reference (GHR) contains information on Methylmalonic acidemia with homocystinuria, type cblC. This website is maintained by the National Library of Medicine.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Methylmalonic acidemia with homocystinuria, type cblC. Click on the link to view a sample search on this topic.