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.
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 12,891,128 to 12,902,420
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 12,891,128 to base pair 12,902,420 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about GCDH?
You and your healthcare professional may find the following resources about GCDH helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for GCDH (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2639%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/608801)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2639)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=4189)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2639)
What other names do people use for the GCDH gene or gene products?
- glutaryl-CoA dehydrogenase, mitochondrial
- glutaryl-Coenzyme A dehydrogenase isoform a precursor
- glutaryl-Coenzyme A dehydrogenase isoform b precursor
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding GCDH?
amino acid ;
coenzyme A ;
glutamic acid ;
nervous system ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May;88(1):90-2. Epub 2006 Feb 8. (http://www.ncbi.nlm.nih.gov/pubmed/16466958?dopt=Abstract)
- Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. Mol Genet Metab. 2000 Nov;71(3):535-7. (http://www.ncbi.nlm.nih.gov/pubmed/11073722?dopt=Abstract)
- OMIM: GLUTARYL-CoA DEHYDROGENASE (http://omim.org/entry/608801)
- Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, Elpeleg ON. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat. 1998;12(3):141-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9711871?dopt=Abstract)
- Greenberg CR, Prasad AN, Dilling LA, Thompson JR, Haworth JC, Martin B, Wood-Steiman P, Seargeant LE, Seifert B, Booth FA, Prasad C. Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada. Mol Genet Metab. 2002 Jan;75(1):70-8. (http://www.ncbi.nlm.nih.gov/pubmed/11825066?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16602100?dopt=Abstract)
- Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006 Jun;59(6):840-7. Epub 2006 Apr 26. (http://www.ncbi.nlm.nih.gov/pubmed/16641220?dopt=Abstract)
- Kölker S, Hoffmann GF, Schor DS, Feyh P, Wagner L, Jeffrey I, Pourfarzam M, Okun JG, Zschocke J, Baric I, Bain MD, Jakobs C, Chalmers RA. Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics. 2003 Jun;34(5):253-60. (http://www.ncbi.nlm.nih.gov/pubmed/14598231?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2639)
- Tang NL, Hui J, Law LK, Lam YY, Chan KY, Yeung WL, Chan AY, Cheung KL, Fok TF. Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Hum Mutat. 2000 Nov;16(5):446. (http://www.ncbi.nlm.nih.gov/pubmed/11058907?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.