| H00165 | |
| H番号 | H00165 |
| 名称 | チロシン血症 |
| 概要 | The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). This disorder is associated with liver failure, painful neurologic crises, rickets, and hepatocarcinoma. Type II is caused by a deficiency of tyrosine aminotransferase (TAT), and clinically presents with hyperkeratotic plaques on the hands and soles of the feet and photophobia due to deposition of tyrosine crystals within the cornea. Type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, that is associated with ataxia and mild mental retardation. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06016 Phenylalanine and tyrosine metabolism |
| 病因遺伝子 | (TYRSN1) FAH [HSA:2184] [KO:K01555] (TYRSN2) TAT [HSA:6898] [KO:K00815] (TYRSN3) HPD [HSA:3242] [KO:K00457] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ニチシノン [DR:D05177] |
| コメント | - |
| リンク | ICD-11: 5C50.11 5C50.12 ICD-10: E70.2 MeSH: D020176 OMIM: 276700 276600 276710 140350 |
| 文献 | PMID:16602095 著者 Scott CR タイトル The genetic tyrosinemias. 雑誌 Am J Med Genet C Semin Med Genet 142C:121-6 (2006) DOI:10.1002/ajmg.c.30092 PMID:15531838 著者 Karnik D, Thomas N, Eapen CE, Jana AK, Oommen A タイトル Tyrosinemia type I: a clinico-laboratory case report. 雑誌 Indian J Pediatr 71:929-32 (2004) DOI:10.1007/BF02830839 PMID:18422479 著者 Santra S, Baumann U タイトル Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. 雑誌 Expert Opin Pharmacother 9:1229-36 (2008) DOI:10.1517/14656566.9.7.1229 PMID:1401056 (FAH) 著者 Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM タイトル Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 雑誌 J Clin Invest 90:1185-92 (1992) DOI:10.1172/JCI115979 PMID:1357662 (TAT) 著者 Natt E, Kida K, Odievre M, Di Rocco M, Scherer G タイトル Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 雑誌 Proc Natl Acad Sci U S A 89:9297-301 (1992) DOI:10.1073/pnas.89.19.9297 PMID:10942115 (HPD) 著者 Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E タイトル Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 雑誌 Hum Genet 106:654-62 (2000) DOI:10.1007/s004390050039 |