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Article

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

Metabolic brain disease - 1 Jun 2021

Alibakhshi Reza, Mohammadi Aboozar, Salari Nader, Khamooshian Sahand, Kazeminia Mohsen, Moradi Keivan

Abstract excerpt

As one of the highest prevalence rates in the world, the prevalence of Phenylketonuria (PKU) in Iran has been estimated at 16.5 per 100,000 neonates. The objective of this study was to evaluate the spectrum and frequency of mutations of the phenylalanine hydroxylase (PAH) gene in Iranian PKU patients. A systematic review was carried out on previous studies on PAH gene mutations in Iranian PKU patients. A complete...

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Identifiers

PMID: 33625639
DOI: 10.1007/s11011-021-00698-4

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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