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Qu'est-ce (qui) est GTP cyclohydrolase I - définition
GTP cyclohydrolase I
MAMMALIAN PROTEIN FOUND IN HOMO SAPIENS
GTP cyclohydrolase 1; Gtp cyclohydrolase; Gtp cyclohydrolase i; GCH1; GCH1 (gene); EC 3.5.4.16; GTPCH1; GTPCHI; GTP 7,8-8,9-dihydrolase
GTP cyclohydrolase I (GTPCH) () is a member of the GTP cyclohydrolase family of enzymes. GTPCH is part of the folate and biopterin biosynthesis pathways.
Autosomal dominant GTP cyclohydrolase I deficiency
![Figure 1. Pattern of cerebrospinal fluid markers in autosomal dominant GTP cyclohydrolase I deficiency compared with other forms of [[tetrahydrobiopterin deficiency]], from a consensus guideline by Thomas Opladen et al., 2020.<ref name="pmid32456656"/>](https://commons.wikimedia.org/wiki/Special:FilePath/Pattern of cerebrospinal fluid metabolites for Autosomal dominant GTP cyclohydrolase I deficiency.png?width=200 "Figure 1. Pattern of cerebrospinal fluid markers in autosomal dominant GTP cyclohydrolase I deficiency compared with other forms of [[tetrahydrobiopterin deficiency]], from a consensus guideline by Thomas Opladen et al., 2020.<ref name=\"pmid32456656\"/>")
Autosomal dominant GTP cyclohydrolase I deficiency (AD-GTPCHD) is a disease caused by dysfunction of GTP cyclohydrolase I, an enzyme that plays an important role in the synthesis of tetrahydrobiopterin, and, as a consequence, of dopamine. This condition is one of the six known causes of tetrahydrobiopterin deficiency and is the most frequently-reported cause of dopa-responsive dystonia.
Autosomal recessive GTP cyclohydrolase I deficiency
Autosomal recessive GTP cyclohydrolase I deficiency (AR-GTPCHD) is a disorder associated with the deficient operation of the enzyme GTP cyclohydrolase I. The condition leads to insufficient production of the cofactor tetrahydrobiopterin necessary for the proper synthesis of dopamine and serotonin and for maintenance of adequate levels of phenylalanine.
