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Galactosemias (Galactosemia)

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
Networked: 928 relevant articles (15 outcomes, 74 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Galactosemias (Galactosemia)
2. Homocystinuria
3. Maple Syrup Urine Disease
4. Phenylketonurias (Phenylketonuria)
5. Fructose Intolerance (Intolerance, Fructose)

Experts

1. Fridovich-Keil, Judith L: 33 articles (01/2020 - 08/2002)
2. Berry, Gerard T: 26 articles (09/2021 - 01/2004)
3. Timson, David J: 21 articles (05/2021 - 04/2003)
4. Rubio-Gozalbo, M Estela: 19 articles (01/2020 - 11/2006)
5. Lai, Kent: 17 articles (01/2021 - 07/2004)
6. Coelho, Ana I: 13 articles (01/2022 - 01/2014)
7. Bosch, Annet M: 13 articles (09/2021 - 05/2004)
8. Lai, K: 11 articles (11/2019 - 05/2000)
9. Tang, Manshu: 10 articles (01/2021 - 11/2005)
10. Segal, Stanton: 10 articles (05/2008 - 01/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Galactosemias:
1. Galactose (Galactopyranose)FDA LinkGeneric
2. UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA
3. galactose-1-phosphateIBA
4. LactoseFDA LinkGeneric
5. Proteins (Proteins, Gene)FDA Link
6. GalactitolIBA
7. Pyruvic Acid (Pyruvate)IBA
8. CarbohydratesIBA
9. Hemoglobins (Hemoglobin)IBA
10. Coenzyme A (CoA)IBA

Therapies and Procedures

1. Therapeutics
2. Phototherapy (Light Therapy)
3. Oral Administration
4. Diet Therapy (Therapy, Diet)
5. Drug Therapy (Chemotherapy)