- 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 andgalactitol secondary to the decreased conversion of galactose togalactose-1-phosphate bygalactokinase .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 unlikegalactose-1-phosphate uridyltransferase deficiency , the symptoms are relatively mild. The only known symptom in affected children is the formation ofcataracts , 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 asocial smile and failure to visually track moving objects.See also
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Galactosemia References
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