Search results for "possible mitochondrial disease"

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Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia

2015

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 i…

Malemedicine.medical_specialtyPediatricsMitochondrial DiseasesUbiquinoneMitochondrial diseaseautismArticleCatalysislcsh:ChemistryInorganic Chemistrychemistry.chemical_compoundFolic AcidCarnitinemental disordersIntellectual disabilitymedicineHumansHyperlactatemiaCarnitinePhysical and Theoretical Chemistrypossible mitochondrial diseasePsychiatrylcsh:QH301-705.5Molecular BiologySpectroscopyCoenzyme Q10business.industryOrganic ChemistryInfantCognitionVitaminsGeneral Medicinemedicine.diseaseComputer Science ApplicationsMitochondrial respiratory chainlcsh:Biology (General)lcsh:QD1-999chemistryintellectual disabilityChild Development Disorders PervasiveAutism spectrum disorderChild Preschoolmuscular toneAutismFemalebusinessmedicine.drugInternational Journal of Molecular Sciences
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