Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.
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ABSTRACT: Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objective of this report is to describe the clinical features of patients with these comorbidities in order to shed light on difficult diagnostic and therapeutic approaches in such patients. We reported the different clinical features of children with ID associated with hyperlactacidemia and deficiencies in mitochondrial respiratory chain complex II-IV activity whose clinical presentations are commonly as
SUBMITTER: Guevara-Campos J
PROVIDER: S-EPMC4346931 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
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