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Diseases

Genetic and Rare Diseases Information Center (GARD)

Methylmalonic aciduria, cblB type


Other Names for this Disease
  • Methylmalonic acidemia cblB type
  • Vitamin B12-responsive methylmalonic aciduria, type cblB
  • Vitamin B12-responsive methylmalonic acidemia type cblB
  • METHYLMALONIC ACIDURIA, cblB TYPE
  • METHYLMALONIC ACIDEMIA, cblB TYPE
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Overview

Methylmalonic aciduria, cblB type 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 aciduria, cblB type is caused by changes (mutations) in the MMAB 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 a special diet and various medications and/or supplements.[1][2]
Last updated: 11/17/2015

References

  1. Methylmalonic acidemia. Genetics Home Reference. July 2011; http://www.ghr.nlm.nih.gov/condition/methylmalonic-acidemia.
  2. Manoli I & Venditti CP . Methylmalonic Acidemia. GeneReviews. 2010; http://www.ncbi.nlm.nih.gov/books/NBK1231/. Accessed 10/29/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Methylmalonic aciduria, cblB type. 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

  • 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 aciduria, cblB type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Methylmalonic acidemia cblB type
  • Vitamin B12-responsive methylmalonic aciduria, type cblB
  • Vitamin B12-responsive methylmalonic acidemia type cblB
  • METHYLMALONIC ACIDURIA, cblB TYPE
  • METHYLMALONIC ACIDEMIA, cblB TYPE
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.