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Article

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects.

Journal of child neurology - 1 Jun 2016

Khemir Sameh, Halayem Soumeyya, Azzouz Hatem, Siala Hajer, Ferchichi Maherzia, Guedria Asma, Bedoui Amel, Abdelhak Sonia, Messaoud Taieb, Tebib Neji, Belhaj Ahlem, Kaabachi Naziha

Abstract excerpt

Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5)...

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Identifiers

PMID: 26759449
DOI: 10.1177/0883073815623636

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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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