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Glutaric Acidemia Type 1

 

OMIM

Glutaric acidemia type I is an autosomal recessive disorder in which the body is unable to process certain proteins properly. Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. This leads to excessive levels of these amino acids which results in damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur.

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. Babies with glutaric acidemia type I are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity, or decreased muscle tone. In some cases patients developeded bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms.

Glutaric acidemia type I occurs in approximately 1 of every 30,000 to 40,000 individuals. It is much more common in the Amish community and in the Ojibwa population of Canada, where up to 1 in 300 newborns may be affected.

Methodology: Sequencing analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code E72.3

Test Requisition: Sequencing Requisition

CPT Code: 81406 Cost: $863.00

Turn-around-time: 14 days

Specimen Requirements

Shipping Information

References

1. Funk CB, Prasad AN, Frosk P, Sauer S, Kölker S, Greenberg CR, Del Bigio MR. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain. 2005 Apr;128(Pt 4):711-22.

2. Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. Review.

3. Kölker S, Koeller DM, Okun JG, Hoffmann GF. Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol. 2004 Jan;55(1):7-12. Review.

 



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