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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)

Year introduced: 2000(1966)

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Subheadings:

Tree Number(s): C10.228.140.163.100.320, C16.320.565.189.320, C16.320.565.202.355, C18.452.132.100.320, C18.452.648.189.320, C18.452.648.202.355

MeSH Unique ID: D005693

Entry Terms:

  • Galactosemia
  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
  • Galactose 1 Phosphate Uridyl Transferase Deficiency Disease
  • Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase
  • Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase
  • Epimerase Deficiency Galactosemia
  • Deficiency Galactosemia, Epimerase
  • Deficiency Galactosemias, Epimerase
  • Epimerase Deficiency Galactosemias
  • Galactosemia, Epimerase Deficiency
  • Galactosemias, Epimerase Deficiency
  • Galactose-1-Phosphate Uridyltransferase Deficiency
  • Deficiencies, Galactose-1-Phosphate Uridyltransferase
  • Deficiency, Galactose-1-Phosphate Uridyltransferase
  • Galactose 1 Phosphate Uridyltransferase Deficiency
  • Galactose-1-Phosphate Uridyltransferase Deficiencies
  • Uridyltransferase Deficiencies, Galactose-1-Phosphate
  • Uridyltransferase Deficiency, Galactose-1-Phosphate
  • UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease
  • UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease
  • Galactosemia, Classic
  • GALT Deficiency
  • Deficiencies, GALT
  • Deficiency, GALT
  • GALT Deficiencies
  • UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency
  • UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency
  • UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
  • UTP Hexose 1 Phosphate Uridylyltransferase Deficiency
  • Classic Galactosemia
  • Classic Galactosemias
  • Galactosemias, Classic
  • Galactose-1-Phosphate Uridylyltransferase Deficiency
  • Deficiencies, Galactose-1-Phosphate Uridylyltransferase
  • Deficiency, Galactose-1-Phosphate Uridylyltransferase
  • Galactose 1 Phosphate Uridylyltransferase Deficiency
  • Galactose-1-Phosphate Uridylyltransferase Deficiencies
  • Uridylyltransferase Deficiencies, Galactose-1-Phosphate
  • Uridylyltransferase Deficiency, Galactose-1-Phosphate
  • UDPglucose 4-Epimerase Deficiency Disease
  • UDPglucose 4 Epimerase Deficiency Disease
  • Deficiency Disease, UDPglucose 4-Epimerase
  • Deficiency Disease, UDPglucose 4 Epimerase
  • Galactose Epimerase Deficiency
  • Deficiencies, Galactose Epimerase
  • Deficiency, Galactose Epimerase
  • Galactose Epimerase Deficiencies
  • UDP-Galactose-4-Epimerase Deficiency Disease
  • UDP Galactose 4 Epimerase Deficiency Disease
  • Galactosemia III
  • Galactosemia IIIs
  • GALE Deficiency
  • Deficiencies, GALE
  • Deficiency, GALE
  • GALE Deficiencies
  • UDP-Galactose-4-Epimerase Deficiency
  • Deficiencies, UDP-Galactose-4-Epimerase
  • Deficiency, UDP-Galactose-4-Epimerase
  • UDP Galactose 4 Epimerase Deficiency
  • UDP-Galactose-4-Epimerase Deficiencies
  • Deficiency Disease, UDP-Galactose-4-Epimerase
  • Deficiency Disease, UDP Galactose 4 Epimerase
  • Deficiency Diseases, UDP-Galactose-4-Epimerase
  • UDP-Galactose-4-Epimerase Deficiency Diseases
  • Galactosemia 3
  • Galactosemia 3s
  • Galactokinase Deficiency Disease
  • Galactokinase Deficiency Diseases
  • Hereditary Galactokinase Deficiency
  • Deficiencies, Hereditary Galactokinase
  • Deficiency, Hereditary Galactokinase
  • Galactokinase Deficiencies, Hereditary
  • Galactokinase Deficiency, Hereditary
  • Hereditary Galactokinase Deficiencies
  • Galactosemia 2
  • Galactosemia 2s
  • GALK Deficiency
  • Deficiencies, GALK
  • Deficiency, GALK
  • GALK Deficiencies
  • Deficiency Disease, Galactokinase
  • Galactokinase Deficiency
  • Deficiencies, Galactokinase
  • Deficiency, Galactokinase
  • Galactokinase Deficiencies

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