Tyrosinemia type III in an asymptomatic girl

Tyrosinemia type III in an asymptomatic girl

Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait. The disorder is characterized by tyrosine accumulation in body fluids and massive excretion...

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Bibliographic Details
Main Authors: Edyta Szymanska, Malgorzata Sredzinska, Elzbieta Ciara, Dorota Piekutowska-Abramczuk, Rafal Ploski, Dariusz Rokicki, Anna Tylki-Szymanska
Format: Article
Language:English
Published: Elsevier 2015-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Tyrosinemia type III
Tyrosine metabolism
HPD gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915300392

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