Journal du diabète et de la pratique clinique

Abstrait

Disorders of Mitochondrial Fatty Acid -Oxidation that are Genetically Inherited

Harper Goodwin

Disorders of mitochondrial fatty acid oxidation are a group of genetically inherited conditions characterized by impaired metabolism of fatty acids within the mitochondria, leading to energy production deficits. These rare disorders result from mutations in genes encoding enzymes or transporters involved in the beta-oxidation pathway. Clinical features vary widely and may include recurrent hypoglycaemia, muscle weakness, cardiomyopathy, and liver dysfunction. Diagnosis involves clinical evaluation, biochemical testing, and genetic analysis. Management focuses on preventing metabolic crises, optimizing nutrition, and addressing specific symptoms. Ongoing research aims to improve diagnostic methods and explore potential therapeutic approaches, including gene therapy. A comprehensive understanding of these disorders is crucial for effective diagnosis, management, and ultimately, improving the quality of life for affected individuals.