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Glycerol intolerance syndrome

Disorders of glycerol metabolism include glycerol kinase (GK) deficiency (GKD) and glycerol intolerance syndrome (GIS). Of these, only GKD is well characterized and has a defined biochemical defect [1]. [Pg.245]

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]. [Pg.369]

P. Fort, R. A. Wapnir, F. De Rosas, and F. Lifshitz Long-term evolution of glycerol intolerance syndrome. J Pediatr 106 453, 1985. [Pg.375]


See other pages where Glycerol intolerance syndrome is mentioned: [Pg.370]    [Pg.370]   
See also in sourсe #XX -- [ Pg.245 ]




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