Zellweger syndrome
Zellweger syndrome is a rare genetic disorder that affects the body's ability to break down certain fats, leading to a buildup of toxic substances. It is part of a group of disorders known as peroxisomal biogenesis disorders, which result from mutations in genes responsible for the formation and function of peroxisomes, small organelles in cells that help metabolize fatty acids.
Symptoms of Zellweger syndrome typically appear at birth and may include severe developmental delays, distinctive facial features, and liver dysfunction. Unfortunately, the condition is often life-limiting, with many affected individuals not surviving past early childhood. Early diagnosis and supportive care can help manage some symptoms.