Evidence for Treatable Inborn Errors of Metabolism in a Cohort of 187 Greek Patients with Autism Spectrum Disorder (ASD)

Evidence for Treatable Inborn Errors of Metabolism in a Cohort of 187 Greek Patients with Autism Spectrum Disorder (ASD)

We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4 -14 years old) who presented with confirmed features of ASD. Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant imp...

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Bibliographic Details
Main Authors: Martha eSpilioti, Athanasios eEvangeliou, Despoina eTramma, Zoe eTheodoridou, Spyridon eMetaxas, Eleni eMichailidi, Eleni eBonti, Helen eFrysira, Katerina eHaidopoulou, Despoina eAsprangathou, Aggelos eTsalkidis, Panagiotis eKardaras, Ron eWevers, Cornelis eJakobs, Michael eGibson
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-12-01
Series:Frontiers in Human Neuroscience
Subjects:
Biotin
Ketogenic Diet
autism
Inborn errors of metabolism
phenylketonuria
3-hydroxyisovaleric acid
Online Access:http://journal.frontiersin.org/Journal/10.3389/fnhum.2013.00858/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fnhum.2013.00858/full

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