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Article

A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia.

Clinical laboratory - 1 Jan 2013

Raeisi Marzieh, Mahdieh Nejat, Yousefzadeh Amir, Vahidi Roghayeh, Rahimi Nazanin, Zeinali Sirous

Abstract excerpt

BACKGROUND: Neonatal screening for PKU is carried out nationally and our center is one of the referral centers for molecular analysis of PKU in Iran. Hyperphenylalaninemias are common disorders of phenyalanine catabolism. Six genes, including PAH, PTPS, DHPR, GTPCH, SR, and PCBD, independently play a role in this disorder. METHODS: A 2-year-old boy was referred to our center for genetic diagnosis of PKU. PAH gene...

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Identifiers

PMID: 24133926
DOI: 10.7754/clin.lab.2013.121017

Genes

PAH

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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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