peroxisomal disorder

Peroxisomal disorders are congenital conditions caused by mutations in genes related to peroxisome function. Peroxisomes are vital organelles within eukaryotic cells responsible for oxidizing molecules like fatty acids and amino acids, and for synthesizing membrane lipids called plasmalogens.12

These disorders result in a reduced number or complete absence of peroxisomes, leading to the accumulation of substances such as very-long-chain fatty acids, copper, and iron in the blood and tissues. Symptoms vary but can include severe neurological compromise, developmental delays, intellectual disability, and organ dysfunction. Zellweger syndrome is a severe example, often fatal within the first year of life. While some treatments exist for specific conditions like X-linked adrenoleukodystrophy, many peroxisomal disorders lack specific cures.132