Plasma and red blood cell fatty acids in peroxisomal disorders

Ann B. Moser, David S. Jones, Gerald V. Raymond, Hugo W. Moser

Research output: Contribution to journalArticlepeer-review

73 Scopus citations

Abstract

The demonstration of abnormal levels of fatty acids or plasmalogens in plasma or red blood cells is key to the diagnosis of peroxisomal disorders. We report the levels of 62 fatty acids and plasmalogens in patients with X- linked adrenoleukodystrophy (X-ALD), Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), both at baseline and after dietary interventions. 'Lorenzo's Oil' therapy in X-ALD normalizes the levels of saturated very long chain fatty acids in plasma, but leads to reduced levels of omega 6 and other omega 3 fatty acids, and requires monitoring and appropriate dietary supplements. Patients with ZS, NALD and IRD have reduced levels of docosahexaenoic acid (DHA) and arachidonic acid (AA) which can he normalized by the oral administration of microencapsulated DHA and AA.

Original languageEnglish (US)
Pages (from-to)187-197
Number of pages11
JournalNeurochemical Research
Volume24
Issue number2
DOIs
StatePublished - 1999

Bibliographical note

Funding Information:
Supported in part by grants FDR 001289 and 000685 from the Food and Drug Administration, and RR 00052 General Clinical Research Center from the National Institutes of Health. We thank the Martek Biosciences Corporation for the supply of the DHA and AA preparations (DHASCO and ARASCO).

Keywords

  • Fatty acids
  • Infantile Refsum disease
  • Neonatal adrenoleukodystrophy
  • Plasmalogens
  • X-linked adrenoleukodystrophy
  • Zellweger syndrome

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