Oksüdaasidefekt

Oksüdaasidefekt, also known as peroxisomal biogenesis disorder type 3 (PBD-III), is a rare genetic disorder that affects the function of peroxisomes. Peroxisomes are essential organelles within cells responsible for a variety of metabolic processes, including the breakdown of fatty acids, the synthesis of plasmalogens, and detoxification. Defects in peroxisome biogenesis lead to a deficiency or absence of functional peroxisomes, consequently impairing these vital functions.

Oksüdaasidefekt is caused by mutations in the PEX10 gene, which encodes a protein crucial for the import of peroxisomal proteins into the peroxisome. When the PEX10 gene is mutated, this import process is disrupted, leading to a buildup of toxic substances within the cell and a failure of peroxisomes to carry out their normal duties. The inheritance pattern of oksüdaasidefekt is autosomal recessive, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

The clinical manifestations of oksüdaasidefekt can vary widely in severity but often include severe neurological impairment, intellectual disability, seizures, vision and hearing loss, and characteristic facial features. Other symptoms may involve liver dysfunction, skeletal abnormalities, and growth retardation. The diagnosis typically involves biochemical tests to measure levels of very long-chain fatty acids and other metabolites that accumulate due to peroxisomal dysfunction, often followed by genetic testing to confirm mutations in the PEX10 gene. There is currently no cure for oksüdaasidefekt, and treatment focuses on managing symptoms and providing supportive care to improve the quality of life for affected individuals.