{"orpha":2102,"name":"GTP cyclohydrolase I deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GTPCH deficiency","Hyperphenylalaninemia due to GTP cyclohydrolase deficiency"],"definition":"GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2102/","orphanet_url":"https://www.orpha.net/en/disease/detail/2102","names":{"fr":{"name":"Déficit en GTP cyclohydrolase I","synonyms":["Déficit en GTPCH","Hyperphénylalaninémie par déficit en GTP cyclohydrolase"],"definition":"Le déficit en GTPcyclohydrolase I (transmission récessive autosomique) est une des étiologies des hyperphénylalaninémies « malignes » par déficit en tétrahydrobioptérine, responsable, outre de l'hyperphénylalaninémie, d'un déficit de la neurotransmission monoaminergique, conséquence du dysfonctionnement des autres hydroxylases tétrahydrobioptérine-dépendantes : tyrosine et tryptophane hydroxylases."},"de":{"name":"GTP-Cyclohydrolase I-Mangel","synonyms":["GTPCH-Mangel","Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, B"],"definition":"Der GTP-Cyclohydrolase I-Mangel wird autosomal-rezessiv vererbt und ist eine der Ursachen der malignen Hyperphenylalaninämie mit Mangel des Kofaktors Tetrahydrobiopterin. Dieser Kofaktormangel verursacht aber nicht nur eine Hyperphenylalaninämie, sondern zusätzlich noch eine Störung der monoaminergen Neurotransmission, da auch die Tyrosin- und die Tryptophanhydroxylase tetrahydrobiopterin-abhängig und deshalb ebenfalls gestört ist."},"es":{"name":"Deficiencia de GTP-ciclohidrolasa I","definition":"El déficit de GTP-ciclohidrolasa, una alteración genética autosómica recesiva, es una de las causas de hiperfenilalaninemia debida al déficit de tetrahidrobiopterina. El déficit de tetrahidrobiopterina no solamente causa hiperfenilalaninemia, también es responsable de la transmisión defectuosa de las monoaminas dado al malfuncionamiento de las hidroxilasas de tirosina y triptófano, ambas hidroxilasas dependientes de tetrahidrobiopterina."},"it":{"name":"Deficit di GTP cicloidrolasi 1","synonyms":["Deficit di GTPCH","Iperfenilalaninemia da deficit di GTP cicloidrolasi"]},"nl":{"name":"GTP-cyclohydrolase I-deficiëntie","synonyms":["GTPCH-deficiëntie","Hyperfenylalaninemie door GTP-cyclohydrolasedeficiëntie"],"definition":"Deficiëntie van GTP-cyclohydrolase I is een autosomaal recessieve genetische aandoening, en een van de oorzaken van maligne hyperfenylalaninemie als gevolg van tetrahydrobiopterinedeficiëntie. Naast hyperfenylalaninemie is tetrahydrobiopterinedeficiëntie ook verantwoordelijk voor defectieve monoaminerge neurotransmissie door verstoorde werking van tyrosine- en tryptofaanhydroxylases, enzymen die afhankelijk zijn van tetrahydrobiopterine."},"pt":{"name":"Deficiência de GTP cicloidrolase I","synonyms":["Deficiência de GTPCH","Hiperfenilalaninemia por deficiência de GTP cicloidrolase"],"definition":"A deficiência de GTP-cicloidrolase I, uma doença genética autossómica recessiva, é uma das causas de hiperfenilalaninemia maligna por deficiência de tetrahidrobiopterina. A deficiência em tetrahidrobiopterina não só causa a hiperfenilalaninemia, como também é responsável pela deficiência na neurotransmissão por monoaminas devido à disfunção das tirosina e triptofano hidroxilases, ambas enzimas dependentes de tetrahidrobiopterina."},"pl":{"name":"Niedobór cyklohydrolazy I GTP","synonyms":["Hiperfenylalaninemia spowodowana niedoborem cyklohydrolazy GTP","Niedobór GTPCH"]},"cs":{"name":"Deficit GTP cyklohydrolázy I","synonyms":["Deficit GTPCH","Hyperfenylalaninemie způsobená deficitem GTP cyklohydrolázy"]},"uk":{"name":"Дефіцит ГТФ-циклогідролази I","synonyms":["Дефіцит GTPCH","Гіперфенілаланінемія внаслідок дефіциту ГТФ-циклогідролази"],"definition":"GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases."},"zh":{"name":"GTP环化水解酶I缺乏症","synonyms":["GTP环化水解酶缺乏致高苯丙氨酸血症"]},"tr":{"name":"GTP siklohidrolaz I eksikliği","synonyms":["GTPCH eksikliği","GTP siklohidrolaz eksikliğine bağlı hiperfenilalaninemi"]}},"xrefs":[{"source":"OMIM","code":"233910","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"987168605"},{"source":"MONDO","code":"0100186","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562656","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268467","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":238583,"name":"Hyperphenylalaninemia due to tetrahydrobiopterin deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"GCH1","name":"GTP cyclohydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4193","ensembl":"ENSG00000131979","omim":"600225","loci":["14q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}