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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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Overview

Methylmalonic acidemia with homocystinuria, type cblD is an inherited condition in which the body is unable to 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.[1][2]
Last updated: 11/9/2015

References

  1. Methylmalonic acidemia. Genetics Home Reference. July 2011; http://www.ghr.nlm.nih.gov/condition/methylmalonic-acidemia.
  2. Carrillos-Carrasco N, Adams D & Venditti CP. Disorders of Intracellular Cobalamin Metabolism. GeneReviews. November 21, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1328/.
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Basic Information

  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.