Ontology highlight
ABSTRACT:
SUBMITTER: Chen T
PROVIDER: S-EPMC6244417 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Scientific reports 20181120 1
Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in a cohort of 420 patients from neonatal screening between 1999 and 2016. The observed phenotypes comprised 43.57% classic phenylketonuria, 33.10% mild PKU, and 23.33% mild hyperphenylalaninemia, with an overall PAHD incidence of 1 in 20, ...[more]