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 language||English (US)|
|Number of pages||5|
|State||Published - Dec 1 1989|
ASJC Scopus subject areas
- Clinical Neurology