Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders.
Abnormally high levels of very long-chain fatty acids (VLCFA) are a feature in nine of the fifteen peroxisomal disorders that have been identified so far. Saturated VLCFA accumulate in X-linked adrenoleukodystrophy, appear to disrupt membrane structure, and may play a role in the pathogenesis of a brain inflammatory response. Dietary therapy initiated when patients are still asymptomatic may be of clinical benefit.
Moser
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HW
Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland 21205, USA.
Moser
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AB
D000326:Adrenoleukodystrophy / Q000235:genetics / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism*; D008040:Genetic Linkage; D006801:Humans; D018901:Peroxisomal Disorders / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism* / Q000628:therapy; D014960:X Chromosome; D015211:Zellweger Syndrome / Q000097:blood
D005227:Fatty Acids