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Methylmalonic acidemia and homocystinuria cblC type


Other Names for this Disease

  • cblC
  • Cobalamin C disease
  • Methylmalonic acidemia and homocystinuria cblc
  • Methylmalonic aciduria and homocystinuria cblc
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.[1]
Last updated: 6/11/2014

References

  1. 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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Methylmalonic acidemia and homocystinuria cblC type. 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.

In Depth Information

  • 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 and homocystinuria cblC type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • cblC
  • Cobalamin C disease
  • Methylmalonic acidemia and homocystinuria cblc
  • Methylmalonic aciduria and homocystinuria cblc
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.