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Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders

  • Inborn Errors of Metabolism
  • Published:
Lipids

Abstract

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.

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Abbreviations

AMN:

adrenomyeloneuropathy

AOX:

acyl-CoA oxidase

BIF:

bifunctional enzyme

DHA:

docosahexaenoic acid

IRD:

infantile Refsum disease

NALD:

neonatal adrenoleukodystrophy

RDCP:

rhizomelic chondrodysplasia punctata

VLCFA:

very long-chain fatty acids

X-ALD:

X-linked adrenoleukodystrophy

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Authors and Affiliations

  1. Kennedy Krieger Institute, 707 North Broadway, 21205, Baltimore, MD

    Hugo W. Moser & Ann B. Moser

  2. Departments of Neurology and Pediatrics at Johns Hopkins University, 707 North Broadway, 21205, Baltimore, MD

    Hugo W. Moser & Ann B. Moser

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  1. Hugo W. Moser
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  2. Ann B. Moser
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Moser, H.W., Moser, A.B. Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders. Lipids 31, S141–S144 (1996). https://doi.org/10.1007/BF02637066

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