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.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity and mental retardation * Hairy cell leukemia * Hairy… …   Wikipedia

  • 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

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”