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Genetic and Rare Diseases Information Center (GARD)

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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

What is glutaric acidemia type I?

How do people inherit glutaric acidemia type I?

What is glutaric acidemia type I?

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]
Last updated: 3/18/2011

How do people inherit glutaric acidemia type I?

Glutaric acidemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 3/18/2011

References
  1. Glutaric acidemia type I. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i. Accessed 3/18/2011.


Other Names for this Disease
  • GA 1
  • Glutaric acidemia 1
  • Glutaric acidemia type 1
  • Glutaric aciduria 1
  • Glutaryl-CoA dehydrogenase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.