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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China

14 Nov 2018

Abstract excerpt

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...

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PMID: 30459323
DOI: 10.1038/s41598-018-35373-9

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