A rare fatal genetic disease. Victims of this disorder do not make bile acids or plasmalogens, nor are they able to shorten the very long fatty acids. These biochemical deficiencies are seemingly unrelated to the structural abnormalities observed in liver, kidney, muscle, and brain.
Zellweger syndrome is a rare hereditary disorder characterized by decreased or missing peroxisomes in the liver, kidney, and brain cells. Manifestations include facial dysmorphology, opthamological and neurological abnormalities, hepatomegaly, and unusual problems in prenatal development.