Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects

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–R...

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Bibliographic Details
Published in:Journal of child neurology 2016-06, Vol.31 (7), p.843-849
Main Authors: Khemir, Sameh, Halayem, Soumeyya, Azzouz, Hatem, Siala, Hajer, Ferchichi, Maherzia, Guedria, Asma, Bedoui, Amel, Abdelhak, Sonia, Messaoud, Taieb, Tebib, Neji, Belhaj, Ahlem, Kaabachi, Naziha
Format: Article
Language:English
Subjects:
Adolescent
Age Factors
Algeria
Autistic Disorder - complications
Autistic Disorder - genetics
Autistic Disorder - metabolism
Child
Child, Preschool
Exons
Family
Female
Gene Frequency
Humans
Life Sciences
Male
Mutation
Phenylalanine Hydroxylase - genetics
Phenylketonurias - complications
Phenylketonurias - diet therapy
Phenylketonurias - genetics
Phenylketonurias - metabolism
Prognosis
Psychiatric Status Rating Scales
Tunisia
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Summary: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) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms’ evolution.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073815623636