GCDH Gene

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Li, V. GCDH Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5635 (accessed on 21 September 2026).

Li V. GCDH Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5635. Accessed September 21, 2026.

Li, Vivi. "GCDH Gene" Encyclopedia, https://encyclopedia.pub/entry/5635 (accessed September 21, 2026).

Li, V. (2020, December 25). GCDH Gene. In Encyclopedia. https://encyclopedia.pub/entry/5635

Li, Vivi. "GCDH Gene." Encyclopedia. Web. 25 December, 2020.

GCDH Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/gcdh

Glutaryl-CoA dehydrogenase

genes

References

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.
Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, UzielG, 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. 2000Nov;71(3):535-7.
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.
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 first3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 inManitoba and northwestern Ontario, Canada. Mol Genet Metab. 2002 Jan;75(1):70-8.
Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet CSemin Med Genet. 2006 May 15;142C(2):86-94. Review.
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 treatmentefficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.Pediatr Res. 2006 Jun;59(6):840-7.
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-CoAdehydrogenase deficiency: region-specific analysis of organic acids andacylcarnitines in post mortem brain predicts vulnerability of the putamen.Neuropediatrics. 2003 Jun;34(5):253-60.
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 Ifamilies. Hum Mutat. 2000 Nov;16(5):446.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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