GTP cyclohydrolase I deficiency

GTPシクロヒドロラーゼI欠損症

WordNet

1. the 9th letter of the Roman alphabet (同)i
2. the 7th letter of the Roman alphabet (同)g

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. 『私は』私が
3. iodineの化学記号

UpToDate Contents

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• 1. ジストニアの分類および評価 classification and evaluation of dystonia
• 2. 小児における運動過多な運動障害 hyperkinetic movement disorders in children

English Journal

• Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.

• Sato H1, Uematsu M2, Endo W1, Nakayama T1, Kobayashi T1, Hino-Fukuyo N1, Sakamoto O1, Shintaku H3, Kure S1.
• Brain & development.Brain Dev.2014 Mar;36(3):268-71. doi: 10.1016/j.braindev.2013.04.003. Epub 2013 May 6.
• Autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH) deficiency is an inborn error of tetrahydrobiopterin (BH4) synthesis from GTP. GTPCH deficiency causes severe reduction of BH4, resulting in hyperphenylalaninemia (HPA) and decreased dopamine and serotonin synthesis. Without treatme
• PMID 23660475

• Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.

• Lee JY1, Yang HJ, Kim JM, Jeon BS.
• Parkinsonism & related disorders.Parkinsonism Relat Disord.2013 Dec;19(12):1156-9. doi: 10.1016/j.parkreldis.2013.08.003. Epub 2013 Sep 7.
• OBJECTIVE: To describe the long-term follow-up data of Korean patients with GTP cyclohydrolase (GTPCH) I deficient dopa-responsive dystonia (DRD) with novel mutations and unusual long-lasting dyskinesias.METHODS: Clinical features and genetic testing results of GCH1 from 19 patients that included 4
• PMID 24018121

• Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

• Opladen T1, Hoffmann GF, Kühn AA, Blau N.
• Molecular genetics and metabolism.Mol Genet Metab.2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12.
• Phenylalanine (Phe) loading test is a useful tool in the differential diagnosis of dopa-responsive dystonia due to autosomal dominant or recessive GTP cyclohydrolase I (GTPCH) deficiency or autosomal recessive sepiapterin reductase (SR) deficiency. In these patients hepatic phenylalanine hydroxylase
• PMID 23375473

Japanese Journal

• ビオプテリンの生理機能と病態代謝

• ビタミン 88(3), 131-138, 2014
• NAID 110009807287

• Increased de novo riboflavin synthesis and hydrolysis of FMN are involved in riboflavin secretion from Hyoscyamus albus hairy roots under iron deficiency

• Plant Physiology and Biochemistry 58, 166-173, 2012-09
• NAID 120004724388

• バイオプテリンと小児神経疾患

• 脳と発達 41(1), 5-10, 2009-01-01
• NAID 10023975557

Related Links

• Orphanet: GTP cyclohydrolase I deficiency

GTPCH deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Prevalence 1 / 1 000 000 Inheritance Autosomal recessive Age of onset Neonatal/infancy ICD-10 E70.1 E79.8 OMIM 233910 UMLS C0268467 MeSH ...

• GTP cyclohydrolase I deficiency | Disease | Overview | Office ...

Your Questions Answered by the Genetic and Rare Diseases Information Center Please contact us with your questions about GTP cyclohydrolase I deficiency. We will answer your question and update these pages with ...

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★リンクテーブル★

リンク元	「GTPシクロヒドロラーゼI欠損症」
関連記事	「deficiency」「I」「GTP」「GTP cyclohydrolase」「G」

「GTPシクロヒドロラーゼI欠損症」

　　[★]

英

GTP cyclohydrolase I deficiency

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「I」

　　[★]

• イソロイシン isoleucine
• イノシン inosine
• 阻害剤 inhibitor
• iodine
• ヨード iodide
• I因子 factor I

　 　 　

「GTP」

　　[★]

• グアノシン三リン酸 guanosine triphosphate
• グルタミルトランスペプチダーゼ　→　γ-グルタミルトランスペプチダーゼ

「GTP cyclohydrolase」

　　[★]

GTPシクロヒドロラーゼ、(日本語の間違い)GTPシクロヒドラーゼ

関

GCH、GTP cyclohydrolase I

「G」

　　[★]

• グアニン guanine
• グアノシン guanosine
• グリシン glycine