title: Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.
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 associated with the classic spectrum of mitochondrial diseases. We concluded that patients with ASD and ID presenting with persistent hyperlactacidemia should be evaluated for mitochondrial disorders. Administration of carnitine, coenzyme Q10, and folic acid is partially beneficial, although more studies are needed to assess the efficacy of this vitamin/cofactor treatment combination.
authors: Felipe Guevara Rojas" Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui, 6034 Venezuela, Spain. joguevara90@hotmail.com.
authors: José
authors: J
authors: Guevara-Campos
authors: Felipe Guevara Rojas" Hospital, Epilepsy and Encephalography Unit, El Tigre-Anzoátegui, 6034 Venezuela, Spain. proyectoasociacion@hotmail.com.
authors: Lucía
authors: L
authors: González-Guevara
authors: Department of Nursing, University of Valencia, 46010 Valencia, Spain. omar.cauli@uv.es.
authors: Omar
authors: O
authors: Cauli
mesh_terms: D002331:Carnitine / Q000627:therapeutic use; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000188:drug therapy* / Q000523:psychology; D002675:Child, Preschool; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D065906:Hyperlactatemia / Q000150:complications* / Q000188:drug therapy; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000188:drug therapy / Q000523:psychology; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000188:drug therapy; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use; D014815:Vitamins / Q000008:administration & dosage* / Q000627:therapeutic use
chemical_list: D014815:Vitamins; D014451:Ubiquinone; D005492:Folic Acid; C024989:coenzyme Q10; D002331:Carnitine