Disorders of Glycerol Metabolism

Glycerol kinase deficiency (GKD) is the only disorder of glycerol metabolism for which the biochemical defect is known and well-characterized [1]. Glycerol intolerance syndrome (GIS) is poorly characterized and appears to be associated, at least in part, with fructose-1,6-diphosphatase deficiency [2–5]. Among individuals with GKD, there are three distinct clinical phenotypes, the complex form (17.1.1) and two subtypes of the isolated form — symptomatic (juvenile, 17.1.2) and benign (adult, 17.1.3) [1].