Acyl-CoA oxidase deficiency

PDB 2ddh EBI

Acyl-CoA Oxidase Deficiency is a rare metabolic disorder that affects the body's ability to break down certain fats. This condition is part of a group of diseases known as peroxisomal disorders, which are characterized by the impairment of peroxisomes. Peroxisomes are small, membrane-bound organelles found in virtually all eukaryotic cells that play a key role in the metabolism of fatty acids and other critical biological processes. Acyl-CoA oxidase deficiency specifically impacts the enzyme acyl-CoA oxidase, which is essential for the beta-oxidation of very long-chain fatty acids (VLCFAs).

Symptoms and Diagnosis

The symptoms of acyl-CoA oxidase deficiency can vary widely among affected individuals. Common manifestations include developmental delay, hypotonia (decreased muscle tone), seizures, and abnormalities in liver function. In severe cases, the disorder can lead to significant neurological impairment and physical disabilities.

Diagnosis of acyl-CoA oxidase deficiency typically involves biochemical tests that measure the accumulation of VLCFAs in blood and tissues, which is indicative of a peroxisomal disorder. Genetic testing can confirm the diagnosis by identifying mutations in the ACOX1 gene, which encodes the acyl-CoA oxidase enzyme.

Treatment and Management

There is currently no cure for acyl-CoA oxidase deficiency, and treatment is primarily supportive and symptomatic. Management strategies may include nutritional support, physical therapy, and interventions to address specific symptoms such as seizures. Regular follow-up with a team of healthcare providers experienced in metabolic disorders is essential to monitor the progression of the disease and adjust treatment as necessary.

Genetics

Acyl-CoA oxidase deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers of one mutated gene typically do not show symptoms of the disease.

Research and Outlook

Research into acyl-CoA oxidase deficiency and other peroxisomal disorders is ongoing, with scientists exploring potential treatments such as gene therapy and enzyme replacement therapy. Advances in understanding the genetic and molecular basis of these conditions may lead to improved diagnostic methods and therapies in the future.