Neurological manifestations of juvenile glycerol kinase deficiency: Improvement with nutritional therapy

R. R. Howell, R. Grier, B. Dominguez, D. K. Draehn

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

A 2-year-old male presented with recurrent hypothermia and lethargy. Moderate developmental delay was present but there was no evidence for muscular disease or adrenal insufficiency. Marked elevations in urinary and serum glycerol were present, and leukocyte glycerol kinase was deficient. He represents the rare juvenile form of glycerol kinase deficiency. Marked clinical improvement followed nutritional treatment with a low-fat diet.

Original languageEnglish (US)
Pages (from-to)126-130
Number of pages5
JournalBrain Dysfunction
Volume2
Issue number3
StatePublished - Dec 1 1989
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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