Types of peroxisomal disorders: peroxisomal biogenesis disorders and single enzyme protein deficienc

Most peroxisomal disorders are rare, genetic (autosomal recessive) conditions that are often terminal and affect several organ systems of the body. Both types of peroxisomal disorders can cause similar symptoms and affect how the peroxisomes function.

There are two types of peroxisomal disorders: peroxisomal biogenesis disorders and single enzyme protein deficiencies.

SINGLE ENZYME/PROTEIN DEFICIENCIES - These affect the function of some of the parts within the peroxisome. Only these parts are not performing the job they are supposed to. All the other peroxisome parts are there, and the peroxisomes themselves are there and are otherwise functional.

PEROXISOME BIOGENESIS DISORDERS - These affect the overall assembly AND function of the entire peroxisome. The peroxisome parts are all working but since the peroxisome itself is not forming properly, all of the parts cannot do their job.

PARTS - Enzymes or proteins that are housed in the peroxisome

SPECTRUM - Depending on the specific gene defect, the peroxisome part or its assembly can be affected to a large or smaller degree. This translates into a more or less severe disease picture.

Find out more about how a peroxisome works and what it does in the body at: https://www.ncbi.nlm.nih.gov/books/NBK9930/

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