tyrosinemia

(redirected from Tyrosinaemia)
Also found in: Dictionary, Thesaurus, Medical.
Related to Tyrosinaemia: tyrosinemia type 2

tyrosinemia

[‚tir·ə′sē·mē·ə]
(medicine)
An inborn metabolic disorder in which there is a deficiency of the enzyme p-hydroxyphenylpyruvic acid oxidase with abnormally high blood levels of tyrosine and sometimes methionine.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment.
We also suspected inborn errors of metabolism as his liver function worsened with the appearance of hyperammonaemia and tyrosinaemia. However, tyrosinaemia was transient due to worsening liver function.
Keywords: Tyrosinaemia type I, Focal hepatic lesion, Pakistani children.
Hereditary tyrosinaemia type I (HT-I) (OMIM 276700) is a rare autosomal recessive disease caused by deficiency of fumarylacetoacetate hydrolase (FAH), which is the last enzyme in tyrosine catabolic pathway.
Tyrosinaemia type I is a rare inherited metabolic disorder with a worldwide incidence of 1:100,000-1:120,000 with highest incidence in Scandinavia and Quebec, where the incidence is 1:20,000.6 In Pakistan the incidence of HT-I is not known.
Urinary succinylacetone presence and S-aminolaevulinic acid excretion in patients with type I tyrosinaemia during treatment.
Neonatal screen for hereditary tyrosinaemia type I [Letter].
tyrosinaemia) and, if contained within the liver, is also effectively treated with total hepatectomy and transplantation.