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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. 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 serious 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 genetic changes 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.
What are the alternative names for Galactokinase Deficiency?
  • Galactokinase deficiency
  • GALK deficiency
  • GALK-D
  • Galactokinase deficiency galactosemia
  • Galactosemia 2
  • Galactosemia type 2
  • Hereditary galactokinase deficiency
Who are the top Galactokinase Deficiency Local Doctors?
Elite in Galactokinase Deficiency
Elite in Galactokinase Deficiency
Maastricht, LI, NL 

Maria Gozalbo-Rubio practices in Maastricht, Netherlands. Ms. Gozalbo-Rubio is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. Her top areas of expertise are Classic Galactosemia, Galactose Epimerase Deficiency, Galactokinase Deficiency, and Galactosemia.

Elite in Galactokinase Deficiency
Elite in Galactokinase Deficiency
Sendai, JP 

Shigeo Kure practices in Sendai, Japan. Mr. Kure is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. His top areas of expertise are Galactokinase Deficiency, Galactose Epimerase Deficiency, Classic Galactosemia, and Galactosemia.

 
 
 
 
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Elite in Galactokinase Deficiency
Elite in Galactokinase Deficiency
Maastricht, LI, NL 

Ana Coelho practices in Maastricht, Netherlands. Ms. Coelho is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. Her top areas of expertise are Classic Galactosemia, Galactosemia, Galactose Epimerase Deficiency, and Galactokinase Deficiency.

What are the latest Galactokinase Deficiency Clinical Trials?
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing Gonadal tissue allows for fertility preservation.

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Babble Boot Camp for Infants With Down Syndrome: Improving Speech and Language Outcomes Via a Proactive, Parent-led Intervention

Summary: Children with Down syndrome (DS) face life-long struggles with verbal communication. Babble and speech sound development is delayed, and speech can be difficult to understand. Words emerge late, at 21 months on average, compared to 12 months for typical peers, and vocabulary and grammar can remain limited throughout adulthood. Because DS is diagnosed at or even before birth, these difficulties are...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center