Here I present: “Zellweger Spectrum Disorder”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ZSD) 澤爾維格綜合症。icd10=E71.510
INTRODUCTION.
Zellweger spectrum disorder (ZSD) belongs to a group of disorders called Peroxisomal Disorders, all of which are categorised by a PEX gene defect. There can be up to 12 different gene mutations that can occur with this condition. Previously, ZSD was listed as three (3) different disorders; Zellweger Syndrome which is the most severe form, Neonatal Adrenoleukodystrophy which has a level of intermediate severity and Infantile Refsum Disease which is the least severe of the three disorders mentioned. However, they are now all listed under the ZSD spectrum.
The genes that are impacted with ZSD condition are all involved in producing peroxins which assist in the production of the membrane which separates the membrane of your body’s cell from the peroxisomes, they also help to transport enzymes to break substances down within the cells. Peroxisomes help to break down fats in cells and can also be useful for an effective nervous system and for effective digestion. With a gene mutation for ZSD, the body cannot break down these fats which can lead to an accumulation of metabolites in the body.
