Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania

Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacid metabolism. The variations in phenylalanine-hydroxylase (PAH) gene lead to a lowered enzymatic activity causing hyperphenylalaninemia. PKU has a mean European p...

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Bibliographic Details

Published in:	Romanian Journal of Pediatrics
Main Authors:	Alin Remus Iuhas, Claudia Jurca, Marius Bembea
Format:	Article
Language:	English
Published:	Amaltea Medical Publishing House 2022-06-01
Subjects:	phenylketonuria pku pku epidemiology pku metabolic phenotype
Online Access:	https://rjp.com.ro/articles/2022.2/RJP_2022_2_Art-02.pdf