Save information for later
Sign Up

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?
Medical Genetics | Pediatrics
Medical Genetics | Pediatrics
300 Longwood Ave, 
Boston, MA 
 (68.6 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Harvey Levy is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Levy and is rated as an Advanced provider by MediFind in the treatment of Galactokinase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Homocystinuria, Maternal Hyperphenylalaninemia, and Classic Galactosemia. Dr. Levy is currently accepting new patients.

Medical Genetics
Medical Genetics
80 Pleasant St, Apt #51, 
Brookline, MA 
 (69.5 mi)
Languages Spoken:
English

Yuval Landau is a Medical Genetics provider in Brookline, Massachusetts. Dr. Landau and is rated as an Experienced provider by MediFind in the treatment of Galactokinase Deficiency. His top areas of expertise are Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Urea Cycle Disorders (UCD), and Maple Syrup Urine Disease.

 
 
 
 
Learn about our expert tiers
Learn More
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.

Match to trials
Find the right clinical trials for you in under a minute
Get started
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

Who are the sources who wrote this article ?

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