Autism spectrum disorder in an adolescent with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase of fatty acids caused by a mutation in the HADHA gene in a homozygous state (presentation of a clinical case)

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a congenital, inherited, autosomal recessive disorder of fatty acid metabolism characterized by impaired ability to sequentially metabolize long-chain fatty acids to acetyl-CoA molecules via mitochondrial beta-oxidation. Hypofunction of long-chain 3-hydroxyacyl-CoA dehydrogenase causes disturbances of varying severity in vital organs and systems at the macro- and microlevels, and leads to the development of mental disorders with cognitive impairment, which can be classified as autism spectrum disorder (ASD). This article describes in detail the clinical case of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by a homozygous mutation in the HADHA gene. The patient underwent instrumental (EEG) and laboratory tests (neuro-chemical, biochemical, and immunological markers) and subspecialty consultations/examinations (pediatrician, neurolo-gist, clinical psychologist, psychiatric examination). Based on the results of a comprehensive examination and clinical observation, it is possible to assume that the patient has a comorbid or hereditary disorder of mitochondrial beta-oxidation of fatty acids, an autism spectrum disorder, or schizophrenia with onset in childhood.