Galactokinase Deficiency Overview
Learn About Galactokinase Deficiency
- Galactokinase deficiency
- GALK deficiency
- GALK-D
- Galactokinase deficiency galactosemia
- Galactosemia 2
- Galactosemia type 2
- Hereditary galactokinase deficiency
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.
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.
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.
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...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center