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

Ronald J. Sokol*, Herbert J. Kayden, David B. Bettis, Maret G. Traber, Hans Neville, Steven Ringel, W. Bruce Wilson, David A. Stumpf

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

88 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)543-547
Number of pages5
JournalThe Journal of laboratory and clinical medicine
Volume111
Issue number5
StatePublished - May 1988

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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