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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
  • 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.

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 is glutaric acidemia type I inherited?

Glutaric acidemia type I is inherited in an autosomal recessive manner.[1] This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms.

When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
Last updated: 4/29/2015

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

Is genetic testing available for glutaric acidemia type I?

Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 4/29/2015

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
  • 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.