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 subsequently diagn...

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Veröffentlicht in:	Turkish journal of pediatrics 2016, Vol.58 (3), p.318-322
Hauptverfasser:	Mazlum, Betül, Anlar, Banu, Kalkanoğlu-Sivri, H Serap, Karlı-Oğuz, Kader, Özusta, Şeniz, Ünal, Fatih
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Spectrum Disorder - etiology Brain - pathology Child, Preschool Delayed Diagnosis Humans Magnetic Resonance Imaging Male Phenylketonurias - complications Phenylketonurias - diagnosis Turkey
Online-Zugang:	Volltext
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