Next Article in Journal
A Variant in the Osteoprotegerin Gene Is Associated with Coronary Atherosclerosis in Patients with Rheumatoid Arthritis: Results from a Candidate Gene Study
Next Article in Special Issue
The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
Previous Article in Journal
Exploring Prostate Cancer Genome Reveals Simultaneous Losses of PTEN, FAS and PAPSS2 in Patients with PSA Recurrence after Radical Prostatectomy
Previous Article in Special Issue
Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes
Article Menu
Issue 2 (February) cover image

Export Article

Open AccessArticle

Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia

Felipe Guevara Rojas" Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui, 6034 Venezuela, Spain
Felipe Guevara Rojas" Hospital, Epilepsy and Encephalography Unit, El Tigre-Anzoátegui, 6034 Venezuela, Spain
Department of Nursing, University of Valencia, 46010 Valencia, Spain
Author to whom correspondence should be addressed.
Academic Editor: Merlin G. Butler
Int. J. Mol. Sci. 2015, 16(2), 3870-3884;
Received: 26 November 2014 / Accepted: 4 February 2015 / Published: 11 February 2015
PDF [873 KB, uploaded 11 February 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 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. View Full-Text
Keywords: autism; possible mitochondrial disease; vitamins; intellectual disability; muscular tone autism; possible mitochondrial disease; vitamins; intellectual disability; muscular tone

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Guevara-Campos, J.; González-Guevara, L.; Cauli, O. Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia. Int. J. Mol. Sci. 2015, 16, 3870-3884.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top