Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes

J Lab Clin Med. 1988 May;111(5):548-59.

Abstract

We observed four young adults, including three siblings, with a progressive neurologic disorder that developed over the first two decades. Electrophysiologic studies revealed mildly delayed nerve conduction, decreased amplitudes of sensory action potentials, and sensory delay in the posterior columns. Known causes of similar neurologic disorders were excluded. Although vitamin E deficiency was well documented, intestinal absorption and plasma lipoprotein transport of vitamin E were normal. Incubation studies in vitro failed to identify a plasma factor causing destruction of circulating vitamin E. There was no clinical or laboratory evidence of steatorrhea caused by gastrointestinal, hepatic, or pancreatic disease. Plasma lipoproteins, apolipoprotein B, and adipose tissue fatty acid composition were normal. Oral vitamin E therapy restored serum levels to normal and caused neurologic improvement in two patients. We postulate that an inherited defect in hepatocyte secretion of vitamin E into lipoproteins may account for this disorder, which occurs in sporadic cases as well as in siblings.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Absorption
  • Adult
  • Digestive System / physiopathology
  • Female
  • Humans
  • Lipid Metabolism*
  • Lipoproteins / blood
  • Male
  • Nervous System Diseases / etiology
  • Nervous System Diseases / physiopathology
  • Neurologic Examination
  • Pedigree
  • Vitamin E / blood
  • Vitamin E / metabolism
  • Vitamin E / therapeutic use
  • Vitamin E Deficiency / complications
  • Vitamin E Deficiency / drug therapy
  • Vitamin E Deficiency / genetics
  • Vitamin E Deficiency / metabolism*

Substances

  • Lipoproteins
  • Vitamin E