Galactosemias

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Is a:
  • Disease or Syndrome
Definition:
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 (ovarian failure, premature); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Synonyms:
  • Classic Galactosemia
  • Classic Galactosemias
  • Deficiencies, UDPglucose-Hexose-1-Phosphate Uridylyltransferase
  • Deficiency Disease, Galactokinase
  • Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase
  • Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase
  • Deficiency Disease, UDP Galactose 4 Epimerase
  • Deficiency Disease, UDP-Galactose-4-Epimerase
  • Deficiency Disease, UDPglucose 4 Epimerase
  • Deficiency Disease, UDPglucose 4-Epimerase
  • Deficiency Diseases, UDP-Galactose-4-Epimerase
  • Deficiency, UDPglucose-Hexose-1-Phosphate Uridylyltransferase
  • Disease, UDP-Galactose-4-Epimerase Deficiency
  • Diseases, UDP-Galactose-4-Epimerase Deficiency
  • Galactokinase Deficiency Disease
  • Galactokinase Deficiency Diseases
  • Galactose 1 Phosphate Uridyl Transferase Deficiency Disease
  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
  • Galactosemia
  • Galactosemia, Classic
  • Galactosemias, Classic
  • UDP Galactose 4 Epimerase Deficiency Disease
  • UDP-Galactose-4-Epimerase Deficiency Disease
  • UDP-Galactose-4-Epimerase Deficiency Diseases
  • UDPglucose 4 Epimerase Deficiency Disease
  • UDPglucose 4-Epimerase Deficiency Disease
  • UDPglucose Hexose 1 Phosphate Uridylyltransferase Deficiency
  • UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiencies
  • UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency
  • Uridylyltransferase Deficiencies, UDPglucose-Hexose-1-Phosphate
  • Uridylyltransferase Deficiency, UDPglucose-Hexose-1-Phosphate
  • UTP Hexose 1 Phosphate Uridylyltransferase Deficiency
  • UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
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Narrower Topics:
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