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Article

Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022

Wang Lin, He Bin, Jin Qiujie, Bai Ruimiao, Yu Wenwen, Qiang Rong, Wang Xiaobin

Abstract excerpt

OBJECTIVES: Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism. It is mainly caused by a deficiency in phenylalanine hydroxylase (PAH) and frequently diagnosed with Sanger sequencing. To some extent, allelic dropout can explain the inconsistency in genotype and phenotype. METHODS: Three families were evaluated through DNA sequence analysis, multiplex ligation-dependent...

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Identifiers

PMID: 35026061
DOI: 10.1515/jpem-2021-0336

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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