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Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia
José Guevara-Campos1, Lucía González-Guevara2, Omar Cauli3
1Felipe Guevara Rojas" Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui, 6034 Venezuela, Spain. joguevara90@hotmail.com.
Children with autism spectrum disorder (ASD) and intellectual disability (ID) showing hyperlactacidemia may have mitochondrial disorders. Early evaluation and cofactor treatments show partial benefits, warranting further research.
Area of Science:
- Neurodevelopmental Disorders
- Mitochondrial Medicine
- Genetics
Background:
- Autism spectrum disorder (ASD) with intellectual disability (ID) is a significant neurodevelopmental condition.
- Motor skill delays are common in children with ASD-ID.
- A subset of ASD-ID cases is associated with hyperlactacidemia and mitochondrial dysfunction.
Purpose of the Study:
- To describe clinical features of patients with ASD-ID, hyperlactacidemia, and mitochondrial respiratory chain deficiencies.
- To improve understanding of diagnostic and therapeutic challenges in this patient group.
Main Methods:
- Clinical case reporting and analysis.
- Review of patient presentations with ID, hyperlactacidemia, and mitochondrial respiratory chain complex II-IV activity deficiencies.
Main Results:
- Patients presented with clinical features overlapping with classic mitochondrial diseases.
- Hyperlactacidemia and mitochondrial respiratory chain complex deficiencies were observed in a subgroup of ASD-ID patients.
- Carnitine, coenzyme Q10, and folic acid showed partial therapeutic benefits.
Conclusions:
- Persistent hyperlactacidemia in ASD-ID patients warrants investigation for underlying mitochondrial disorders.
- Further research is needed to confirm the efficacy of combined vitamin/cofactor treatments for ASD-ID with mitochondrial dysfunction.
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