Inherited disorders of fatty alcohol metabolism

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

The importance of long-chain aliphatic alcohols to human biology has recently been emphasized by the discovery of several inborn errors of fatty alcohol metabolism. These inherited diseases include isolated defects in the oxidation of fatty alcohol to fatty acid (Sjogren-Larsson syndrome) and deficient incorporation of fatty alcohol into ether lipids (isolated alkyl dihydroxyacetone phosphate synthase deficiency). In addition, disorders of peroxisomal biogenesis (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease) and peroxisomal protein import (rhizomelic chondrodysplasia punctata) have impaired ether lipid synthesis along with other associated defects in peroxisomal metabolism. All of the inherited disorders of fatty alcohol metabolism are associated with severe neurologic disease, but the contribution of tissue fatty alcohol accumulation to the pathogenesis is not clear. Molecular genetic studies have recently identified many of the disease-causing mutations in these disorders, which should lead to more accurate diagnosis and genetic counseling. Although prenatal diagnosis offers a method for preventing these genetic diseases, no effective therapy exists to alleviate the symptoms.

Original languageEnglish (US)
Pages (from-to)63-73
Number of pages11
JournalMolecular Genetics and Metabolism
Volume65
Issue number2
DOIs
StatePublished - Oct 1998

Keywords

  • Alkyl dihydroxyacetone phosphate synthase
  • Fatty alcohol
  • Fatty aldehyde dehydrogenase
  • Genetic disease
  • Peroxisomal disorders
  • Peroxisome
  • Peroxisome biogenesis
  • Plasmalogens
  • Sjogren-Larsson syndrome
  • Wax esters
  • Zellweger syndrome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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