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Reviewed March 2007

What is the official name of the GCDH gene?

The official name of this gene is “glutaryl-CoA dehydrogenase.”

GCDH is the gene's official symbol. The GCDH gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the GCDH gene?

The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is found in mitochondria, the energy-producing centers of cells. The GCDH enzyme is involved in the breakdown of the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of proteins.

How are changes in the GCDH gene related to health conditions?

glutaric acidemia type I - caused by mutations in the GCDH gene

Mutations in the GCDH gene prevent production of the glutaryl-CoA enzyme, or result in the production of a defective enzyme that cannot fulfill its role in the breakdown of lysine, hydroxylysine, and tryptophan. This enzyme deficiency allows these amino acids and their intermediate breakdown products to build up to abnormal levels, which damages the nervous system, especially when the body is under stress.

More than 150 GCDH gene mutations that cause glutaric acidemia type I have been reported in populations around the world. Most of these mutations result in the substitution of one amino acid for another amino acid in the enzyme. In the Old Order Amish community, all known glutaric acidemia type I cases derive from the replacement of the amino acid alanine with the amino acid valine at position 421 (written as Ala421Val or A421V). A few specific mutations have been seen in certain Native American populations. Individuals with glutaric acidemia type I who belong to the Lumbee community of North Carolina have been found to have a mutation in which the amino acid glutamic acid is replaced with the amino acid lysine at position 414, written as Glu414Lys or E414K. A mutation that replaces a particular DNA building block (nucleotide) called guanine with the nucleotide thymine (written as IVS1, G-T, +5) is prevalent in the Ojibwa population of Canada. As a result of this mutation, an abnormally shortened version of the enzyme is produced. Many different mutations occur in other populations.

Where is the GCDH gene located?

Cytogenetic Location: 19p13.2

Molecular Location on chromosome 19: base pairs 12,891,129 to 12,914,630

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The GCDH gene is located on the short (p) arm of chromosome 19 at position 13.2.

The GCDH gene is located on the short (p) arm of chromosome 19 at position 13.2.

More precisely, the GCDH gene is located from base pair 12,891,129 to base pair 12,914,630 on chromosome 19.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about GCDH?

You and your healthcare professional may find the following resources about GCDH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GCDH gene or gene products?

  • ACAD5
  • GCD
  • glutaryl-CoA dehydrogenase, mitochondrial
  • glutaryl-Coenzyme A dehydrogenase isoform a precursor
  • glutaryl-Coenzyme A dehydrogenase isoform b precursor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding GCDH?

acids ; alanine ; amino acid ; breakdown ; CoA ; coenzyme A ; deficiency ; dehydrogenase ; DNA ; enzyme ; gene ; glutamic acid ; guanine ; lysine ; mitochondria ; mutation ; nervous system ; nucleotide ; population ; precursor ; stress ; substitution ; thymine ; tryptophan ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: March 2007
Published: February 8, 2016