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Diagnosis of phenylketonuria in Children with Autistic symptoms | ||
| Kerbala Journal of Medicine | ||
| Article 1, Volume 10, Issue 1, 2017, Pages 2628-2633 PDF (0 K) | ||
| Authors | ||
| Adel A. Kareem; Husham zuhair Hammoodi; Maher Mahdi Sallih | ||
| Abstract | ||
| background: Autism is a behavioral syndrome with still poorly understood etiologies, nevertheless, phenylketonuria (PKU) was frequently associated with autistic symptoms, and the frequency of this association is variably reported Aim of the study: to bear in mind the diagnosis of phenylketonuria in children presented with autistic symptoms. Patient and methods: Patients with Autistic disorder was diagnosed according to DSM-5 diagnostic criteria, We describe fourteen patients, eight males and six female, their presentation were autistic behavior with clinical findings included hair hypopigmentation, microcephaly , mousy urine odour and/or positive family history of sibling with same condition, Result: Autism was present in 14 (26%) of phenylketonuria cases diagnosed with same period; 12 patients had classic PKU and 2 had mild PKU, with average age 5.1 ± 2.696 , all of them are borne to related parent and they have one or more features making PKU index of suspicion. Conclusion: The present study confirms that PKU is one of the causes of autism. Delay in the diagnosis and management of PKU, may leads to significant incidence autistic features in these patients. | ||
| Keywords | ||
| Phenylketonuria; Autism | ||
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