Galactokinase deficiency

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 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 ]

Causes

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 = http://www.emedicine.com/ped/TOPIC815.HTM |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

References


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