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Galactosemias (Galactosemia) Summary

Description: 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)

Also Known As: Galactosemia; UTP Hexose-1-Phosphate Uridylyltransferase Deficiency; Classic Galactosemia; Galactose 1 Phosphate Uridyl Transferase Deficiency Disease; UDP Galactose 4 Epimerase Deficiency Disease Show All >>

Networked: 648 relevant articles (8 outcomes, 49 trials/studies) for this Disease

Key Drugs and Agents for Galactosemias

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase) : 2 outcomes 4 studies in 87 results : IBA
  2. Galactose (Galactopyranose) : 1 outcome 12 studies in 262 results : FDA 3 Generic
  3. galactose-1-phosphate : 1 outcome 5 studies in 98 results : IBA
  4. Pyruvic Acid (Pyruvate) : 1 outcome 1 study in 2 results : IBA
  5. Carbohydrates : 1 outcome in 7 results : IBA
  6. Hemoglobins (Hemoglobin) : 1 outcome in 6 results : IBA
  7. Coenzyme A (CoA) : 1 outcome in 1 result : IBA
  8. formic acid (formate) : 1 outcome in 1 result : IBA
  9. methylcrotonoyl-CoA carboxylase : 1 outcome in 1 result : IBA
  10. A 7 (A-7) : 1 outcome in 1 result : IBA
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Diseases Related to Galactosemias

  1. Homocystinuria
  2. Tyrosinemias (Tyrosinemia)
  3. Fructose Intolerance (Intolerance, Fructose)
  4. Maple Syrup Urine Disease
  5. Congenital Disorders of Glycosylation
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Key Therapies for Galactosemias

Efficacy Chart >>
  1. Oral Administration : 1 study in 1 result
  2. Erythrocyte Transfusion : 3 results
  3. Drug Therapy (Chemotherapy) : 3 results
  4. Diet Therapy (Therapy, Diet) : 3 results
  5. Blood Transfusion (Blood Transfusions) : 2 results
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