hyperglycerolemia

hyperglycerolemia
hy·per·glyc·er·ol·emia (hi″pər-glis″ər-ol-eґme-ə) 1. accumulation and excretion of glycerol caused by deficiency of glycerol kinase activity, an X-linked trait caused by mutation in the glycerol kinase gene (GK, locus: Xp21.3-p21.2). The infantile or microdeletion form is caused by a chromosomal deletion that usually also involves one or both of the loci for Duchenne muscular dystrophy and congenital adrenal hypoplasia; resultant phenotypes include features characteristic to the defective locus or loci. The juvenile form is characterized by episodes of vomiting, metabolic acidosis, stupor, and coma and is caused by deficiency of glycerol kinase only, as is the adult form, which is generally symptomless. 2. excess of glycerol in the blood.

Medical dictionary. 2011.

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  • glycerol kinase — glyc·er·ol ki·nase (glis″ər ol kiґnās) [EC 2.7.1.30] an enzyme of the transferase class that catalyzes the phosphorylation of glycerol to form glycerol 3 phosphate. Deficiency of the enzyme, an X linked trait, causes… …   Medical dictionary

  • glyceroluria — glyc·er·ol·uria (glis″ər ol uґre ə) excretion of glycerol in the urine, such as in hyperglycerolemia …   Medical dictionary

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