Journal of child neurology · 2016
Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects.
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Khemir Sameh, Halayem Soumeyya, Azzouz Hatem, Siala Hajer, Ferchichi Maherzia, Guedria Asma, Bedoui Amel, Abdelhak Sonia, Messaoud Taieb, Tebib Neji, Belhaj Ahlem, Kaabachi Naziha
Аннотация
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.