264 top medical experts on Galactosemias across 49 countries and 24 U.S. states, including 66 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Galactosemias: A group of inherited enzyme deficiencies which feature elevations of galactose in the blood. This condition may be associated with deficiencies of galactokinase; udpglucose-hexose-1-phosphate uridylyltransferase; or udpglucose 4-epimerase. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with failure TO thrive; vomiting; and intracranial hypertension. Affected individuals also may develop mental retardation; jaundice; hepatosplenomegaly; ovarian failure (primary ovarian insufficiency); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Errors Carbohydrate Metabolism (1,325), Inborn Metabolic Brain Diseases (1,358).
  4. Clinical Trials ClinicalTrials.gov : at least 11 including 2 Active, 6 Completed, 2 Recruiting
  5. Synonyms: Galactokinase Deficiency Disease,  Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease,  UDPglucose 4-Epimerase Deficiency Disease


  

        

                    


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