Galactokinase deficiency

Galactokinase deficiency


Caption = Galactitol
DiseasesDB = 29829
ICD10 = ICD10|E|74|2|e|70
ICD9 = ICD9|271.1
OMIM = 230200
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 815
MeshID =

Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.cite journal |author=Holton JB |title=Galactose disorders: an overview |journal=J Inherit Metab Dis. |volume=13 |issue=4 |pages=476–486 |year=1990 |pmid=2122114 |doi=10.1007/BF01799505 ]


This is an autosomal recessive disorder,cite journal |author=Asada M, Okano Y, Imamura T, Suyama I, Hase Y, Isshiki G |title=Molecular characterization of galactokinase deficiency in Japanese patients |journal=J Hum Genet. |volume=44 |issue=6 |pages=377–382 |year=1999 |pmid=10570908 |doi=10.1007/s100380050182 ] and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is the formation of cataracts, due to production of galactitol in the lens of the eye.cite web |url = |title = Galactokinase Deficiency |accessdate = 2008-08-08 |author = Roth, KS |date = September 10, 2007 |work = eMedicine |publisher = WebMD] Cataracts can present as a failure to develop a social smile and failure to visually track moving objects.

See also

* Galactosemia


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  • 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

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  • 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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