Tyrosinemia

Definition:

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.

References:

[1]. C Ronald Scott, et al. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6. [Content Brief]

[2]. D Phaneuf, et al. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest. 1992 Oct;90(4):1185-92. [Content Brief]

[3]. Deepali Karnik, et al. Tyrosinemia type I: a clinico-laboratory case report. Indian J Pediatr. 2004 Oct;71(10):929-32. [Content Brief]

[4]. E Natt, et al. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci U S A. 1992 Oct 1;89(19):9297-301. [Content Brief]

[5]. Saikat Santra, et al. Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother. 2008 May;9(7):1229-36. [Content Brief]

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