What are Zellweger Spectrum Disorders

Zellweger Spectrum Disorders are a group of rare genetic disorders that affect various body systems. They are characterized by a malfunction in the peroxisomes, which are small structures within cells responsible for various metabolic processes. These disorders are inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.

Individuals with Zellweger Spectrum Disorders may experience a range of symptoms, including developmental delays, intellectual disabilities, hearing and vision problems, liver dysfunction, and skeletal abnormalities. The severity of the disorder can vary widely among affected individuals.

Diagnosis of Zellweger Spectrum Disorders typically involves a combination of clinical evaluation, genetic testing, and imaging studies. Unfortunately, there is currently no cure for these disorders, and treatment primarily focuses on managing symptoms and providing supportive care.

Research efforts are ongoing to better understand Zellweger Spectrum Disorders and develop potential therapies. Genetic counseling is recommended for families with a history of these disorders to assess the risk of passing it on to future generations.