Glutaryl-CoA dehydrogenase deficiency

Glutaric acidemia type 1 (or "Glutaric Aciduria", "GA1", or "GAT1") is an inherited disorder in which the body is unable to process the amino acid lysine, hydroxylysine and tryptophan properly. 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. Mental retardation may also occur. more...

The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others have severe problems. Some babies with glutaric acidemia type 1 are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity or decreased muscle tone. Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery.

The condition is inherited in an autosomal recessive pattern, two copies of the gene GCDH must be mutated to cause glutaric acidemia type 1. The GCDH gene encodes 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 enzyme deficiency allows lysine, hydroxylysine and tryptophan and their intermediate breakdown products to build up to abnormal levels, especially at times when the body is under stress. The intermediate breakdown products resulting from incomplete processing of lysine, hydroxylysine and tryptophan can damage the brain. They are particularly prone to affect the basal ganglia, causing the signs and symptoms of glutaric acidemia type 1.

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

This article incorporates public domain text from The U.S. National Library of Medicine

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