Tyrosinemia, type I
Tyrosinemia, type II
Tyrosinemia, type III
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.
Inherited metabolic disease; Nervous system disease
Human diseases [BR:
Congenital disorders of metabolism
Congenital disorders of amino acid metabolism
Human diseases in ICD-11 classification [BR:
05 Endocrine, nutritional or metabolic diseases
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
Phenylalanine and tyrosine metabolism
FAH deficiency in tyrosine degradation
HPD deficiency in tyrosine degradation
TAT deficiency in tyrosine degradation
(Type I) FAH; fumarylacetoacetate hydrolase [HSA:
(Type II) TAT; tyrosine aminotransferase [HSA:
(Type III) HPD; 4-hydroxyphenylpyruvate dioxygenase [HSA:
The genetic tyrosinemias.
Am J Med Genet C Semin Med Genet 142C:121-6 (2006)
Karnik D, Thomas N, Eapen CE, Jana AK, Oommen A
Tyrosinemia type I: a clinico-laboratory case report.
Indian J Pediatr 71:929-32 (2004)
Santra S, Baumann U
Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.
Expert Opin Pharmacother 9:1229-36 (2008)
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