Abstract
Peroxisomes are constituents of all cells in the body except mature red blood cells. Our knowledge of peroxisomes and the clinical disorders resulting from their malfunction has increased enormously in the last two decades. Peroxisomal diseases represent an identifiable group of genetically determined disorders in which the major cause of pathology is either failure to form or maintain the peroxisome, or defective function of a single peroxisomal enzyme. Ten of the 12 peroxisomal diseases present with neurologic manifestations. The availability of new techniques makes prenatal diagnosis possible. This report reviews the current state of knowledge of peroxisomal diseases.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 125-133 |
| Number of pages | 9 |
| Journal | International Pediatrics |
| Volume | 5 |
| Issue number | 2 |
| State | Published - Dec 1 1990 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health