Galactokinase deficiency: Difference between revisions
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{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = Galactokinase deficiency | | Name = Galactokinase deficiency | | ||
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{{SI}} | {{SI}} | ||
{{CMG}} | |||
{{SK}} Galactosemia type 2, GALK deficiency | |||
==Overview== | ==Overview== | ||
Galactokinase deficiency is an autosomal recessive metabolic disease marked by an accumulation of [[galactose]] and [[galactitol]] secondary to the decreased conversion of galactose to [[galactose-1-phosphate]] by [[galactokinase]].<ref name="Holton">{{cite journal |author=Holton JB |title=Galactose disorders: an overview |journal=J. Inherit. Metab. Dis. |volume=13 |issue=4 |pages=476-86 |year=1990 |pmid=2122114 }}</ref> | |||
==Causes== | ==Causes== | ||
Galactokinase deficiency is an autosomal recessive metabolic disease caused by mutations in the GALK1 gene, located on chromosome 17q24. | |||
==History and Symptoms== | |||
Unlike classic galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of galactitol, a product of an alternative route of galactose utilization. Other known symptoms resulting from the cataract related visual deficit are failure to develop a social smile, and failure to visually track moving objects. | |||
==Treatment== | ==Treatment== | ||
Galactokinase deficiency is treated with a diet low in galactose.<ref name="Gitzelmann">{{cite journal |author=Gitzelmann R, Steinmann B |title=Galactosemia: how does long-term treatment change the outcome? |journal=Enzyme |volume=32 |issue=1 |pages=37-46 |year=1984 |pmid=6479120 }}</ref> | Galactokinase deficiency is treated with a diet low in galactose.<ref name="Gitzelmann">{{cite journal |author=Gitzelmann R, Steinmann B |title=Galactosemia: how does long-term treatment change the outcome? |journal=Enzyme |volume=32 |issue=1 |pages=37-46 |year=1984 |pmid=6479120 }}</ref> | ||
== References == | == References == | ||
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<references/> | <references/> | ||
{{Metabolic pathology}} | {{Metabolic pathology}} | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
Latest revision as of 14:39, 15 December 2013
| Galactokinase deficiency | |
 | |
|---|---|
| Galactitol | |
| ICD-10 | E74.2 |
| ICD-9 | 271.1 |
| OMIM | 230200 |
| DiseasesDB | 29829 |
| eMedicine | ped/815 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Galactosemia type 2, GALK deficiency
Overview
Galactokinase deficiency is an autosomal recessive metabolic disease marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.[1]
Causes
Galactokinase deficiency is an autosomal recessive metabolic disease caused by mutations in the GALK1 gene, located on chromosome 17q24.
History and Symptoms
Unlike classic galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of galactitol, a product of an alternative route of galactose utilization. Other known symptoms resulting from the cataract related visual deficit are 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]