WHAT DO PEROXISOMES DO?

Peroxisomal disorders are a group of congenital diseases characterized by the absence of normal peroxisomes in the cells of the body. Peroxisomes do a number of jobs that are needed to help digestion, to help produce certain hormones, and to help the nervous system work properly. In order for the peroxisome to do its job properly it must be properly assembled.  Like anything else in the body, things can go wrong with the peroxisome, and this results in human disease.Peroxisomal disorders are subdivided into two major categories: those disorders resulting from a failure to form intact, normal peroxisomes, resulting in multiple metabolical abnormalities, which are referred to as peroxisome biogenesis disorders (PBD) or as generalized peroxisomal disorders; and those disorders resulting from the deficiency of a single peroxisomal enzyme. There are about 25 peroxisomal disorders known to date.

 peroxisome biogenesis disorders, or PBDs

 

The disorders of the Zellweger spectrum result from defects in the assembley of the peroxiome and are also sometimes called the peroxisome biogenesis disorders, or PBDs.

There are three disorders considered to be part of the Zellweger spectrum: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).

These disorders all result from defects in peroxisome assembly, but reflect varying degrees of severity.

There are at least 12 proteins required for proper assembly of the peroxisome. Defects in any of these 12 proteins result in a disorder of the Zellweger spectrum.

 

DISORDERS OF PEROXISOMAL B OXIDATION

 

These dirorders are often called Pseudo-Zellweger syndrome. These disorders have a different genetic basis.

In pseudo-Zellweger syndrome, there is a specific defect in one of the proteins involved in peroxisomal b-oxidation. 

These three proteins are called 3-oxoacyl-CoA thiolase, bifunctional enzyme, and acyl-CoA oxidase.

Patients with pseudo-Zellweger syndrome only have a defect in peroxisomal b-oxidation, while other peroxisomal functions remain relatively normal.

 

Treatment for all of these diseases is symptomatic. There is no Cure. Research is being done and with our help and yours we hope to one day be able to find a cure for all peroxisomal diseases.

 

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