I am Nicola proud mummy to my angel Teagyn. Teagyn was born on 10-13-00 and she was diagnosed with a peroxisomal disorder  D-bifunctional protein deficiency in February 2004. In the pages that follow I hope to provide information on the two different categories of peroxisomal diseases, as well as provide information on some of the specific disorders. This information is only provided to help parents and caregivers of children living with a peroxisomal disorder, it is not to be considered medical advice. I hope that by creating this page i will be able to raise awarness of peroxisomal diorders and get us on the road to finding a cure.

 

WHAT ARE PEROXISOMES?

A peroxisome is one of four special compartments in the human cell. These individual compartments, known as organelles, are separated from the rest of the cell by a membrane (a "wall" made up of fats and proteins). The peroxisome has two parts -- a peroxisome membrane and the peroxisome matrix. The membrane actually surrounds the matrix. Both the membrane and the matrix contain proteins important to peroxisomal function

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 todate.