KEGG DISEASE: Tyrosinemia

KEGG

DISEASE: Tyrosinemia

Entry

H00165                      Disease

Name

Tyrosinemia

Subgroup

Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
Hawkinsinuria

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00165  Tyrosinemia
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06016  Phenylalanine and tyrosine metabolism
   H00165  Tyrosinemia

Pathway

Tyrosine metabolism

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]

Drug

Nitisinone [DR:D05177]

Other DBs

ICD-11:

5C50.11 5C50.12

ICD-10:

MeSH:

OMIM:

276700 276600 276710 140350

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

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