Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.

ABSTRACT:

Introduction

Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase (PAH) 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.

Materials and methods

The medical records of 116 - DNA sample was available in 110 patients (102 nonrelated individuals) diagnosed with PKU in Latvia were obtained. Phe concentrations were measured in dried blood spots. Genomic DNA was analyzed for pathogenic variants in the PAH gene. Biochemical data were available through follow-up visits of the 83 patients.

Results

In 97% of patients

SUBMITTER: Kreile M 

PROVIDER: S-EPMC7578541 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature