KEGG   DISEASE: H00165Help
Entry
H00165                      Disease                                

Name
Tyrosinemia;
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 is 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 disease; Nervous system disease
BRITE hierarchy
Pathway
Tyrosine metabolism
Phenylalanine metabolism
Gene
(Type I) FAH; fumarylacetoacetate hydrolase [HSA:2184] [KO:K01555]
(Type II) TAT; tyrosine aminotransferase [HSA:6898] [KO:K00815]
(Type III) HPD; 4-hydroxyphenylpyruvate dioxygenase [HSA:3242] [KO:K00457]
Marker
(Type I) Increased fumarylacetoacetic acid [CPD:C01061] and succinylacetone
(Type II) Increased tyrosine [CPD:C00082]
(Type III) Increased 4-hydroxyphenylpyruvate [CPD:C01179]
Drug
(Type I) Nitisinone [DR:D05177]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Scott CR
  Title
The genetic tyrosinemias.
  Journal
Am J Med Genet C Semin Med Genet 142C:121-6 (2006)
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)

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