title: Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects.
abstract: 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.
authors.affiliation: Research Laboratory LR99ES11, Department of Biochemistry, Rabta Hospital and Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia khemirsameh@yahoo.fr.
authors.forename: Sameh
authors.initials: S
authors.lastname: Khemir
authors.affiliation: Razi Hospital, Department of Child Psychiatry, La Manouba, Tunisia Faculty of Medicine, Tunis, Tunisia.
authors.forename: Soumeyya
authors.initials: S
authors.lastname: Halayem
authors.affiliation: Rabta Hospital, Department of Paediatrics, Tunis, Tunisia.
authors.forename: Hatem
authors.initials: H
authors.lastname: Azzouz
authors.affiliation: Children Hospital, Laboratory of Biochemistry and Molecular Biology, Tunis, Tunisia.
authors.forename: Hajer
authors.initials: H
authors.lastname: Siala
authors.affiliation: Rabta Hospital, Department of Paediatrics, Tunis, Tunisia.
authors.forename: Maherzia
authors.initials: M
authors.lastname: Ferchichi
authors.affiliation: Mongi Slim Hospital, Department of Child Psychiatry, La Marsa, Tunisia.
authors.forename: Asma
authors.initials: A
authors.lastname: Guedria
authors.affiliation: Razi Hospital, Department of Child Psychiatry, La Manouba, Tunisia.
authors.forename: Amel
authors.initials: A
authors.lastname: Bedoui
authors.affiliation: Laboratory of Biomedical Genomics and Oncogenetics, LR11IPT05, Institut Pasteur de Tunis, Tunis El Manar University, Tunis, Tunisia.
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.affiliation: Children Hospital, Laboratory of Biochemistry and Molecular Biology, Tunis, Tunisia.
authors.forename: Taieb
authors.initials: T
authors.lastname: Messaoud
authors.affiliation: Rabta Hospital, Department of Paediatrics, Tunis, Tunisia.
authors.forename: Neji
authors.initials: N
authors.lastname: Tebib
authors.affiliation: Faculty of Medicine, Tunis, Tunisia Mongi Slim Hospital, Department of Child Psychiatry, La Marsa, Tunisia.
authors.forename: Ahlem
authors.initials: A
authors.lastname: Belhaj
authors.affiliation: Research Laboratory LR99ES11, Department of Biochemistry, Rabta Hospital and Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia.
authors.forename: Naziha
authors.initials: N
authors.lastname: Kaabachi
mesh_terms: D000293:Adolescent; D000367:Age Factors; D000462:Algeria; D001321:Autistic Disorder / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005190:Family; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000150:complications* / Q000178:diet therapy / Q000235:genetics* / Q000378:metabolism; D011379:Prognosis; D011569:Psychiatric Status Rating Scales; D014416:Tunisia
chemical_list: D010651:Phenylalanine Hydroxylase
keywords: autism; intellectual disability; mutation; phenylketonuria