- galactokinase deficiency
- Galaktokinasemangel m
Fachwörterbuch Medizin Englisch-Deutsch. 2013.
galactokinase deficiency
Schlagen Sie auch in anderen Wörterbüchern nach:
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 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… … Medical dictionary
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
