Ontology highlight
ABSTRACT:
SUBMITTER: Kreile M
PROVIDER: S-EPMC7578541 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Kreile M M Lubina O O Ozola-Zalite I I Lugovska R R Pronina N N Sterna O O Vevere P P Konika M M Malniece I I Gailite L L
Molecular genetics and metabolism reports 20201020
<h4>Introduction</h4>Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase (<i>PAH</i>) gene with a resulting accumulation of phenylalanine (Phe) to neurotoxic levels. Diagnosis of PKU in the Latvian population began in 1985 and the present study's aim was to evaluate the available data on all PKU patients in Latvia.<h4>Materials and methods</h4>The medical records of 116 - DNA sample was available in 110 patients (102 nonrel ...[more]