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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My husband is a carrier of glutamic acidemia type I. I am not a carrier. Are our children at risk to develop this condition? Are all individuals with glutaric acidemia identified in infancy? Where can I access genetic testing for glutaminc acidemia type I?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

If my husband is a carrier but I am not, are our children at risk to develop glutaric acidemia type I?

If your husband is a carrier but you are not, it is unlikely that your children will develop glutaric acidemia type I. As mentioned above, this condition is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. In order for this to happen, both parents would need to be carriers.
Last updated: 3/18/2011

Are all individuals with glutaric acidemia type I diagnosed as infants?

The severity of glutaric acidemia type I varies widely; some individuals are only mildly affected, while others have severe problems. In most cases, signs and symptoms first occur in infancy or early childhood, but in a small number of affected individuals, the disorder first becomes apparent in adolescence or adulthood.[1]
Last updated: 3/18/2011

Where can I access genetic testing for glutaric acidemia type I?

GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Last updated: 6/6/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
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.