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)

Also Known As:

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

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Galactosemias: 944
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Galactosemias: 944
    - Inborn Errors Carbohydrate Metabolism
      - Galactosemias: 944
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Galactosemias: 944
    - Inborn Errors Carbohydrate Metabolism
      - Galactosemias: 944
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Galactosemias: 944

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R Gitzelmann Research Topics

Disease

Drug/Important Bio-Agent (IBA)