A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood

Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients. We present a three-year old boy who exhibited the symptoms of autism and was subsequentl...

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Bibliographic Details
Main Authors: Betül Mazlum, Banu Anlar, H Serap Kalkanoğlu-Sivri, Kader Karlı-Oğuz, Şeniz Özusta, Fatih Ünal
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2016-06-01
Series:The Turkish Journal of Pediatrics
Subjects:
Online Access:https://turkjpediatr.org/article/view/1119