Zellweger Like Syndrome, also referred to as Zellweger Spectrum Disorder, is a rare and complex genetic disorder that affects multiple systems within the body. This congenital condition is part of a group of disorders known as peroxisome biogenesis disorders (PBDs).
Individuals with Zellweger Like Syndrome typically exhibit a variety of symptoms that may include developmental delays, impaired muscle tone, hearing and vision impairments, liver dysfunction, feeding difficulties, and skeletal abnormalities. These symptoms may vary in severity among affected individuals.
The syndrome is characterized by the dysfunctional peroxisomes, which are cellular structures responsible for various metabolic processes, particularly the breakdown of very-long-chain fatty acids. The absence or significant impairment of peroxisome function leads to the accumulation of toxic substances that can cause damage to the brain, liver, and other vital organs.
Diagnosis of Zellweger Like Syndrome is often made in infancy or early childhood through clinical examination, molecular genetic testing, and specific biochemical tests. While there is currently no cure for this disorder, treatment mainly focuses on managing the symptoms and providing supportive care to enhance the individual's quality of life.
Due to its rarity and complexity, Zellweger Like Syndrome requires a multidisciplinary approach to care, involving various healthcare professionals such as geneticists, neurologists, ophthalmologists, and occupational and speech therapists. Ongoing research aims to improve understanding, develop potential therapies, and provide better support for affected individuals and their families.
