Learn About Galactokinase Deficiency

What is the definition of Galactokinase Deficiency?
Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that impairs the body's ability to process and produce energy from a simple sugar called galactose. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood. Galactose is present in many foods, including all dairy products, many baby formulas, and some fruits and vegetables. Children with GALK who are not treated with dietary therapy develop cataracts in the eyes, but otherwise they typically do not have long-term health problems. Rarely, a child with GALK will have pseudotumor cerebri, a condition which mimics the symptoms of a large brain tumor when no brain tumor is present. This is thought to be caused by increased pressure in the brain from cerebrospinal fluid (CSF) due to elevated levels of a galactose product in the CSF. The severe medical problems that occur with "classic" galactosemia (type 1), such as liver, kidney, and brain damage, typically are not present in people with GALK. GALK is caused by mutations in the GALK1 gene and inheritance is autosomal recessive. The disorder may be suspected in babies with an abnormal newborn screening result, or in babies with cataracts. The diagnosis can be confirmed with biochemical and molecular genetic testing. The treatment is dietary therapy, which involves taking calcium supplements and restricting galactose in the diet throughout life to prevent cataracts. If cataracts develop, they usually resolve with dietary therapy. Children with GALK should have their growth monitored, and both children and adults should consult with a dietitian and have regular eye exams. 
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What are the alternative names for Galactokinase Deficiency?
  • GALK deficiency
  • Galactosemia 2
  • Hereditary galactokinase deficiency
  • Galactokinase deficiency galactosemia
  • GALK-D
  • Galactosemia type 2
Who are the top Galactokinase Deficiency Local Doctors?
Elite
Highly rated in
5
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Applied Therapeutics Inc

Paris, FR 

Riccardo Perfetti is in Paris, France. Perfetti is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Galactokinase Deficiency, Galactose Epimerase Deficiency, Classic Galactosemia, and Galactosemia.

Elite
Highly rated in
8
conditions

Maastricht University Medical Center

Maastricht, LI, NL 

Maria Gozalbo-Rubio is in Maastricht, Netherlands. Gozalbo-Rubio is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Galactosemia, Galactokinase Deficiency, Classic Galactosemia, and Galactose Epimerase Deficiency.

 
 
 
 
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Elite
Highly rated in
38
conditions

Tohoku University

Sendai, JP 

Shigeo Kure is in Sendai, Japan. Kure is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. He is also highly rated in 38 other conditions, according to our data. His top areas of expertise are Galactosemia, Galactokinase Deficiency, Galactose Epimerase Deficiency, and Classic Galactosemia.

What are the latest Galactokinase Deficiency Clinical Trials?
A Sequential, Two-Part Study to Evaluate the Clinical Benefit, Safety, Pharmacokinetics, and Pharmacodynamic of AT-007 in Pediatric Subjects With Classic Galactosemia (CG)
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Gonadal Tissue Freezing for Fertility Preservation in Girls at Risk for Ovarian Dysfunction and Premature Ovarian Insufficiency
What are the Latest Advances for Galactokinase Deficiency?
Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified.
Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress.
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