galactokinase deficiency

galactokinase deficiency
ga·lac·to·ki·nase de·fi·cien·cy (gə-lak″to-kiґnās) a form of galactosemia caused by mutations in the galactokinase gene (GALK1, locus: 17q24); deficiency of the enzyme results in accumulation of galactose in blood and tissues and of galactitol in the lens of the eye and causes cataracts in infants and children.

Medical dictionary. 2011.

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  • Galactokinase deficiency — Infobox Disease Name = PAGENAME Caption = Galactitol DiseasesDB = 29829 ICD10 = ICD10|E|74|2|e|70 ICD9 = ICD9|271.1 ICDO = OMIM = 230200 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 815 MeshID = Galactokinase deficiency, also known as… …   Wikipedia

  • Galactokinase — protein Name=galactokinase 1 caption=Cartoon diagram of a human galactokinase 1 monomer in complex with galactose (red) and an ATP analogue (orange). A magnesium ion is visible as a green sphere. From PDB|1WUU. width= HGNCid=4118 Symbol=GALK1… …   Wikipedia

  • galactokinase — An enzyme (phosphotransferase) that, in the presence of ATP, catalyzes the phosphorylation of d galactose to d galactose l phosphate, the first step in the metabolism of d galactose; g. is deficient in one form of galactosemia. * * *… …   Medical dictionary

  • deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of …   Medical dictionary

  • Galactose-1-phosphate uridylyltransferase deficiency — Classification and external resources Galactose ICD 10 E …   Wikipedia

  • Galactosemic cataract — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICD9|366.44, ICD9|271.1 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = A Galactosemic cataract is cataract which is associated with the consequences of… …   Wikipedia

  • Galactosemia — Classification and external resources Galactose ICD 10 E …   Wikipedia

  • Galactosemia — A genetic metabolic disease in which there is a defect in the body s ability to use the sugar galactose. In classic galactosemia, the basic defect is a deficiency of the enzyme known as GALT (galactose 1 phosphate uridyl transferase). This causes …   Medical dictionary

  • Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …   Википедия

  • Galactitol — IUPAC name …   Wikipedia

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