title: Human glycerol kinase deficiency: an inborn error of compartmental metabolism.
abstract: Twelve individuals have been described with glycerol kinase deficiency. Five of these individuals are adults who were noted incidentally to have pseudohypertriglyceridemia. Six of these individuals are children who manifest a clinical complex which includes adrenal hypoplasia/insufficiency and developmental delay. Another child has intermittent coma, a normal IQ, and no evidence of adrenal insufficiency. Genetic and biochemical hypotheses are proposed to explain this clinical variability. Glycerol kinase binds specifically and reversibly to the porin, the pore-forming protein of the outer mitochondrial membrane, which also binds hexokinase. Mutations affecting any component of this kinase-binding system will alter the properties of this system. Glycerol kinase deficiency, as an inborn error of this compartmented metabolic system, offers an investigational opportunity for studying this microenvironment.
mesh_terms: D000309:Adrenal Insufficiency / Q000201:enzymology; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003128:Coma / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005990:Glycerol / Q000097:blood / Q000652:urine; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D007421:Intestine, Small / Q000201:enzymology; D007668:Kidney / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism; D010375:Pedigree; D010770:Phosphotransferases / Q000172:deficiency*
chemical_list: D010770:Phosphotransferases; D005991:Glycerol Kinase; D005990:Glycerol