Galactokinase deficiency: Difference between revisions
Jump to navigation
Jump to search
Brian Blank (talk | contribs) No edit summary |
m Robot: Automated text replacement (-{{SIB}} + & -{{EH}} + & -{{EJ}} + & -{{Editor Help}} + & -{{Editor Join}} +) |
||
| Line 15: | Line 15: | ||
{{SI}} | {{SI}} | ||
==Overview== | ==Overview== | ||
| Line 33: | Line 33: | ||
<references/> | <references/> | ||
{{Metabolic pathology}} | {{Metabolic pathology}} | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
Revision as of 15:25, 9 August 2012
| Galactokinase deficiency | |
 | |
|---|---|
| Galactitol | |
| ICD-10 | E74.2 |
| ICD-9 | 271.1 |
| OMIM | 230200 |
| DiseasesDB | 29829 |
| eMedicine | ped/815 |
Overview
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.[1]
Causes
This is a congenital disease, and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is cataracts, which can present as a failure to develop a social smile, and failure to visually track moving objects.
Treatment
Galactokinase deficiency is treated with a diet low in galactose.[2]