Galactokinase Deficiency

Common Name(s)

Galactokinase Deficiency

Galactokinase deficiency, or galactosemia type 2, is a type of galactosemia that affects how the body processes a simple sugar called galactose.  A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy. Galactokinase deficiency causes fewer medical problems than the classic type. Affected infants usually develop cataracts, but otherwise experience few long-term complications. This condition is caused by mutations in the GALK1 gene and is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Galactokinase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Galactokinase Deficiency" returned 7 free, full-text research articles on human participants. First 3 results:

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
 

Author(s): L Kalaydjieva, A Perez-Lezaun, D Angelicheva, S Onengut, D Dye, N U Bosshard, A Jordanova, A Savov, P Yanakiev, I Kremensky, B Radeva, J Hallmayer, A Markov, V Nedkova, I Tournev, L Aneva, R Gitzelmann

Journal: Am. J. Hum. Genet.. 1999 Nov;65(5):1299-307.

 

Galactokinase deficiency is an inborn error in the first step of galactose metabolism. Its major clinical manifestation is the development of cataracts in the first weeks of life. It has also been suggested that carriers of the deficiency are predisposed to presenile cataracts developing ...

Last Updated: 10 Dec 1999

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Thymidine kinase activity in individuals with galactokinase deficiency.
 

Author(s): K Okajima, M Yazaki, Y Wada

Journal: Am. J. Hum. Genet.. 1987 Sep;41(3):503-4.

 

Last Updated: 6 Oct 1987

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Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency.
 

Author(s): R C Schoen, S H Cox, R P Wagner

Journal: Am. J. Hum. Genet.. 1984 Jul;36(4):815-22.

 

Cells of a person homozygous for galactokinase deficiency and of her heterozygous parents were found to be deficient in the enzyme thymidine kinase. The decrease in thymidine-kinase activity may be the result of a qualitative alteration in the enzyme molecule. This is reflected in ...

Last Updated: 17 Oct 1984

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Reviews from the PubMed Database

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The terms "Galactokinase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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