Plasma and red blood cell fatty acids in peroxisomal disorders

Neurochem Res. 1999 Feb;24(2):187-97. doi: 10.1023/a:1022549618333.

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 be normalized by the oral administration of microencapsulated DHA and AA.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromatography, Gas
  • Dietary Fats, Unsaturated / therapeutic use
  • Drug Combinations
  • Erucic Acids / therapeutic use
  • Erythrocytes / metabolism*
  • Fatty Acids / blood*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Peroxisomal Disorders / blood*
  • Peroxisomal Disorders / diet therapy
  • Triolein / therapeutic use

Substances

  • Dietary Fats, Unsaturated
  • Drug Combinations
  • Erucic Acids
  • Fatty Acids
  • Lorenzo's oil
  • Triolein