Peroxisomal disorders.
Although peroxisomes were once considered a vestige, their importance in cellular metabolism is clearly established by the many inherited diseases that have been described in the past two decades. Unfortunately there is no definitive treatment for the various disorders, but based on the recognition of the biochemical abnormalities, prenatal testing and appropriate genetic counseling can be provided. It is essential for clinicians to be aware of this group of diseases, as diagnosis and further study of these patients are essential in understanding the basic etiologic mechanisms underlying these complex groups of disorders. Clearly, there is much to be learned about the relationship between biochemical abnormalities and the phenotypic variability of the peroxisomal disorders.
Naidu
S
S
Kennedy Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Moser
H W
HW
D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D004798:Enzymes / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008830:Microbodies / Q000648:ultrastructure*; D009468:Neuromuscular Diseases / Q000175:diagnosis*; D013577:Syndrome
D004798:Enzymes