| H00165 | |
| H number | H00165 |
| Name | Tyrosinemia |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | nt06016 Phenylalanine and tyrosine metabolism |
| Gene | (TYRSN1) FAH [HSA:2184] [KO:K01555] (TYRSN2) TAT [HSA:6898] [KO:K00815] (TYRSN3) HPD [HSA:3242] [KO:K00457] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Nitisinone [DR:D05177] |
| Comment | - |
| Other DBs | ICD-11: 5C50.11 5C50.12 ICD-10: E70.2 MeSH: D020176 OMIM: 276700 276600 276710 140350 |
| Reference | PMID:16602095 AUTHORS Scott CR TITLE The genetic tyrosinemias. JOURNAL Am J Med Genet C Semin Med Genet 142C:121-6 (2006) DOI:10.1002/ajmg.c.30092 PMID:15531838 AUTHORS Karnik D, Thomas N, Eapen CE, Jana AK, Oommen A TITLE Tyrosinemia type I: a clinico-laboratory case report. JOURNAL Indian J Pediatr 71:929-32 (2004) DOI:10.1007/BF02830839 PMID:18422479 AUTHORS Santra S, Baumann U TITLE Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. JOURNAL Expert Opin Pharmacother 9:1229-36 (2008) DOI:10.1517/14656566.9.7.1229 PMID:1401056 (FAH) AUTHORS Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM TITLE Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. JOURNAL J Clin Invest 90:1185-92 (1992) DOI:10.1172/JCI115979 PMID:1357662 (TAT) AUTHORS Natt E, Kida K, Odievre M, Di Rocco M, Scherer G TITLE Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. JOURNAL Proc Natl Acad Sci U S A 89:9297-301 (1992) DOI:10.1073/pnas.89.19.9297 PMID:10942115 (HPD) AUTHORS Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E TITLE Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. JOURNAL Hum Genet 106:654-62 (2000) DOI:10.1007/s004390050039 |