Volume 13, Issue 2 (9-2021)
2021, 13(2): 86-89 |
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Vosughi Motlagh A, Abaszade Ganji A, Safarirad M. Diagnosis of Phenylketonuria in an autistic Teenager: A Case Report. North Khorasan University of Medical Sciences 2021; 13 (2) :86-89
URL: http://journal.nkums.ac.ir/article-1-2365-en.html
URL: http://journal.nkums.ac.ir/article-1-2365-en.html
1- Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
2- Student Research Committee, Faculty of Medicine, North Khorasan university of Medical Sciences, Bojnurd, Iran
3- Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran ,dr.safarirad@yahoo.com
2- Student Research Committee, Faculty of Medicine, North Khorasan university of Medical Sciences, Bojnurd, Iran
3- Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran ,
Abstract: (2185 Views)
Phenylketonuria (PKU) is a rare genetical disorder resulting of mutation of PAH gene. Early diagnosis and proper dietary regimen play a key role in the control of PKU. Delay of the diagnosis and initiation of appropriate diet may lead to developmental and/or neurological impairments including intellectual disability and autism spectrum disorder (ASD). Here we report a 15 years and 9 month boy which presented with ASD and his younger sister. In the further investigations, he was diagnosed with PKU. After initiation of phenylalanine-restricted diet, his symptoms decreased. The important point is that a missed metabolic disorders including PKU may be the reason of developmental and neurological impairments. So we recommend to assess this patients for metabolic diseases.
Keywords: Phenylketonuria (PKU), Phenylalanine, Iran, Autism Spectrum Disorder (ASD), Intellectual Disability
Type of Study: Case Report |
Subject:
Basic Sciences
Received: 2020/11/30 | Accepted: 2021/02/3 | Published: 2021/09/14
Received: 2020/11/30 | Accepted: 2021/02/3 | Published: 2021/09/14
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