Peroxisomes have a special transporter system for taking up their enzymes from the cytoplasm. Mutations (mutation) in genes (gene) that encode the enzymes and transporter proteins (protein) of the peroxisome are responsible for a number of human diseases, including Zellweger syndrome, a congenital disorder characterized by complete absence or reduction in number of peroxisomes. Mutations giving rise to this syndrome cause copper, iron, and substances called very long chain fatty acids (fatty acid) to accumulate in the blood and in tissues, such as the liver, brain, and kidneys (kidney). Infants with Zellweger syndrome are often born with facial deformity and intellectual disability; some may have impaired vision and hearing and may experience severe gastrointestinal bleeding or liver failure. Prognosis is poor—most infants with this syndrome do not live beyond one year.

Peroxisomes were identified and described in the 1950s as part of the pioneering work of Christian René de Duve (Duve, Christian René de), who developed cell fractionation techniques. De Duve's method separated organelles based on their sedimentation and density properties; peroxisomes are denser than other organelles. De Duve shared the 1974 Nobel Prize for Physiology or Medicine with Albert Claude (Claude, Albert) and George Palade (Palade, George E.) for this work.