GCH1 Gene

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Li, V. GCH1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5636 (accessed on 21 September 2026).

Li V. GCH1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5636. Accessed September 21, 2026.

Li, Vivi. "GCH1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5636 (accessed September 21, 2026).

Li, V. (2020, December 25). GCH1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5636

Li, Vivi. "GCH1 Gene." Encyclopedia. Web. 25 December, 2020.

GCH1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/gch1

GTP cyclohydrolase 1: The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1.

genes

References

Blau N, Bonafé L, Thöny B. Tetrahydrobiopterin deficiencies withouthyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia andsepiapterin reductase deficiency. Mol Genet Metab. 2001 Sep-Oct;74(1-2):172-85.Review.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P,Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ,Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D,LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network. Exhaustiveanalysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084.
Garavaglia B, Invernizzi F, Carbone ML, Viscardi V, Saracino F, Ghezzi D,Zeviani M, Zorzi G, Nardocci N. GTP-cyclohydrolase I gene mutations in patientswith autosomal dominant and recessive GTP-CH1 deficiency: identification andfunctional characterization of four novel mutations. J Inherit Metab Dis.2004;27(4):455-63.
Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2.Erratum in: J Inherit Metab Dis. 2009 Jun;32(3):457.
Müller U, Steinberger D, Topka H. Mutations of GCH1 in Dopa-responsivedystonia. J Neural Transm (Vienna). 2002 Mar;109(3):321-8. Review.
Ohta E, Funayama M, Ichinose H, Toyoshima I, Urano F, Matsuo M, Tomoko N,Yukihiko K, Yoshino S, Yokoyama H, Shimazu H, Maeda K, Hasegawa K, Obata F. Novelmutations in the guanosine triphosphate cyclohydrolase 1 gene associated withDYT5 dystonia. Arch Neurol. 2006 Nov;63(11):1605-10.
Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency(Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 Jan-Feb;32(1):1-11.Review.
Shintaku H. Disorders of tetrahydrobiopterin metabolism and their treatment.Curr Drug Metab. 2002 Apr;3(2):123-31. Review.
Thöny B, Auerbach G, Blau N. Tetrahydrobiopterin biosynthesis, regenerationand functions. Biochem J. 2000 Apr 1;347 Pt 1:1-16. Review.
Trender-Gerhard I, Sweeney MG, Schwingenschuh P, Mir P, Edwards MJ, Gerhard A,Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominantGTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34patients. J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):839-45. doi:10.1136/jnnp.2008.155861.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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