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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glutaric acidemia type I


Other Names for this Disease
  • GA 1
  • GA1
  • GCDHD
  • Glutaric acidemia 1
  • Glutaric acidemia type 1
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Overview

Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms.[1]
Last updated: 4/29/2015

References

  1. Glutaric acidemia type I. Genetics Home Reference (GHR). March, 2007; http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Glutaric acidemia type I. 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.
  • 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 Glutaric acidemia type I. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GA 1
  • GA1
  • GCDHD
  • Glutaric acidemia 1
  • Glutaric acidemia type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.