Peroxisomal Disorders

Peroxisomes are small structures within the body’s cells that contain enzymes that are responsible for important biochemical reactions that take place within the cells. These enzymes carry out similar functions as the mitochondria (the “power house” of the cells which creates energy), but the peroxisome’s also contain enzymes that are needed to break down very long-chain fatty acids (VLCFA’s) so the body can either use them or get rid of them. If the peroxisome does not function properly, VLCFA’s accumulate and as a general rule, peroxisomal disorders manifest with abnormally high VLCFA levels (with the exception of Rhizomelic Chondrodysplasia) which can help in the diagnosis of these disorders. The peroxisomal disorders are split into two types: the Peroxisomal Biogenesis Disorders (PBD) which are caused by a failure of the peroxisome to form properly leading to multiple defects, and the peroxisome disorders that are caused by defects in single peroxisomal enzymes.

Skip to content