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Glutaric acidemia type I
Other Names for this Disease
- GA 1
- Glutaric acidemia 1
- Glutaric acidemia type 1
- Glutaric aciduria 1
- Glutaryl-CoA dehydrogenase deficiency
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Overview
Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. Glutaric acidemia type I is caused by mutations in the GCDH gene. The condition is inherited in an autosomal recessive manner. Strict dietary control may help limit progression of the neurological damage.[1]
References
- Glutaric acidemia type I. Genetics Home Reference (GHR). http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i. Accessed March 18, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Glutaric acidemia type I. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- 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. To view this fact sheet, click on the link.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Glutaric acidemia type I. Click on the link to go to OMIM and review these resources.