フマリルアセト酢酸分解酵素欠損症 FAH
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- 〈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
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English Journal
- Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
- Angileri F1, Bergeron A, Morrow G, Lettre F, Gray G, Hutchin T, Ball S, Tanguay RM.
- JIMD reports.JIMD Rep.2015;19:43-58. doi: 10.1007/8904_2014_363. Epub 2015 Feb 15.
- Hereditary tyrosinemia type 1 (HT1) (OMIM 276700) is a severe inherited metabolic disease affecting mainly hepatic and renal functions that leads to a fatal outcome if untreated. HT1 results from a deficiency of the last enzyme of tyrosine catabolism, fumarylacetoacetate hydrolase (FAH). Biochemical
- PMID 25681080
- Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
- van Vliet D1, van Dam E, van Rijn M, Derks TG, Venema-Liefaard G, Hitzert MM, Lunsing RJ, Heiner-Fokkema MR, van Spronsen FJ.
- JIMD reports.JIMD Rep.2015;18:117-24. doi: 10.1007/8904_2014_358. Epub 2014 Sep 26.
- Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism caused by fumarylacetoacetase deficiency. Biochemically, this results in accumulation of toxic metabolites including succinylacetone. Clinically, HT1 is characterized by severe liver, kidney, and neurological problems. Treatment with
- PMID 25256450
- Extensive double humanization of both liver and hematopoiesis in FRGN mice.
- Wilson EM1, Bial J1, Tarlow B2, Bial G1, Jensen B1, Greiner DL3, Brehm MA3, Grompe M1.
- Stem cell research.Stem Cell Res.2014 Nov;13(3 Pt A):404-12. doi: 10.1016/j.scr.2014.08.006. Epub 2014 Sep 6.
- Preclinical research in animals often fails to adequately predict the outcomes observed in human patients. Chimeric animals bearing individual human tissues have been developed to provide improved models of human-specific cellular processes. Mice transplanted with human hematopoietic stem cells can
- PMID 25310256
Japanese Journal
- KITAGAWA Teruo
- Proceedings of the Japan Academy, Series B 88(5), 192-200, 2012
- … 4-Hydroxyphenylpyruvate dioxygenase deficiency was originally proposed as the cause of HRT. … They suggested that the primary enzyme deficiency in patients with HRT was fumarylacetoacetate hydrolase, and this was soon confirmed. …
- NAID 130001924745
- フマリルアセト酢酸分解酵素欠損に伴う腎尿細管機能障害と細胞障害 : 遺伝性高チロシン血症I型モデルを用いた腎病変の検討
- 孫 茂森,服部 新三郎,辛島 真如,久保 秀司,山本 哲郎,松田 一郎,遠藤 文夫
- 日本先天代謝異常学会雑誌 14(2), 159, 1998-10-15
- NAID 10018922021
Related Links
- Fumarylacetoacetate hydrolase deficiency information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Fumarylacetoacetate hydrolase deficiency: Related Topics These ...
- Hereditary tyrosinemia is characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH; E.C.3.7.1.2), the last enzyme in the catabolic pathway of tyrosine. FAH was purified from rat and human liver and was used ...
★リンクテーブル★
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- 英
- fumarylacetoacetate hydrolase deficiency
- 関
- フマリルアセト酢酸加水分解酵素、フマリルアセト酢酸分解酵素、フマリルアセト酢酸デヒドロゲナーゼ FAH、チロシン分解酵素、チロジン症
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- 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
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フマリルアセト酢酸ヒドラーゼ FAH
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フマリルアセト・酸