[Disorders associated with alterations in single peroxisomal proteins, including X-linked adrenoleukodystrophy].
X-linked adrenoleukodystrophy is the prototype of the disorders that involve a single peroxisomal protein, and it is by far the most common peroxisomal disorder. The gene that is defective in this disorder is a peroxisomal membrane protein involved, in an as yet undefined manner, in the degradation of very long chain fatty acids. All of the peroxisomal disorders can be identified pre- and postnatally by non-invasive tests.
Moser
H W
HW
Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21205, USA.
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000201:enzymology / Q000235:genetics; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018901:Peroxisomal Disorders / Q000201:enzymology* / Q000235:genetics / Q000401:mortality; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D011296:Prenatal Diagnosis; D015996:Survival Rate; D014960:X Chromosome / Q000235:genetics*
D002352:Carrier Proteins