Ontology highlight
ABSTRACT:
SUBMITTER: Szymanska E
PROVIDER: S-EPMC5471395 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Szymanska Edyta E Sredzinska Malgorzata M Ciara Elzbieta E Piekutowska-Abramczuk Dorota D Ploski Rafal R Rokicki Dariusz D Tylki-Szymanska Anna A
Molecular genetics and metabolism reports 20151022
Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the <i>HPD</i> 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 of tyrosine derivatives into urine (www.orpha.net). Since it is the least frequent form of tyrosinemia, only few cases with the variable but rather mild clinical features have been described so ...[more]