Peroxisomal disorders.
Peroxisomal disorders occur more frequently and have a wider range of clinical manifestations than has been realized in the past. Precise diagnosis can be achieved with non-invasive biochemical assays and all can be diagnosed prenatally, thus providing the option of genetic counseling. Specific therapy is being evaluated for one of these disorders (adrenoleukodystrophy). In addition to these clinical advances, a great deal of information has been gained recently about the biogenesis and normal function of peroxisomes. These latter advances have been stimulated, and in part created, by the study of human disease states. It is for these reasons that a review of these human disease states is relevant for the clinical biochemist.
Moser
H W
HW
Department of Neurogenetics, Kennedy Institute, Baltimore, MD 21205.
D000595:Amino Acid Sequence; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D008830:Microbodies / Q000378:metabolism*; D008969:Molecular Sequence Data