Methylmalonic acidemia with homocystinuria, type cblD
Other Names for this Disease
- HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED
- METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED
- METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY
- METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY
- CblD defect
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metabolize certain proteins and fats properly. Signs and symptoms generally develop in the first few months of life and may include failure to thrive, lethargy, vomiting, dehydration, hypotonia, developmental delay, seizures, ataxia (problems with muscle control), feeding difficulties, and an enlarged liver (hepatomegaly). Intellectual disability is a long-term consequence. Methylmalonic acidemia with homocystinuria, type cblD is caused by changes (mutations) in the MMADHC gene and is inherited in an autosomal recessive manner. There is no cure for the condition. Treatments are focused on alleviating some of the associated symptoms and may include various medications and/or supplements.Methylmalonic acidemia with homocystinuria, type cblD is an inherited condition in which the body is unable to
Last updated: 11/9/2015
- Methylmalonic acidemia. Genetics Home Reference. July 2011; http://www.ghr.nlm.nih.gov/condition/methylmalonic-acidemia.
- Carrillos-Carrasco N, Adams D & Venditti CP. Disorders of Intracellular Cobalamin Metabolism. GeneReviews. November 21, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1328/.
- Genetics Home Reference (GHR) contains information on Methylmalonic acidemia with homocystinuria, type cblD. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 cblD. Click on the link to view a sample search on this topic.