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; UTP Hexose-1-Phosphate Uridylyltransferase Deficiency; Classic Galactosemia; 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; Galactose Epimerase Deficiency; Galactose-1-Phosphate Uridyltransferase Deficiency; Galactosemia 3; Galactosemia, Classic; UDP-Galactose-4-Epimerase Deficiency; UDP-Galactose-4-Epimerase Deficiency Disease; UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease; Classic Galactosemias; Deficiencies, Galactose Epimerase; Deficiencies, Galactose-1-Phosphate Uridyltransferase; Deficiencies, UDP-Galactose-4-Epimerase; Deficiencies, UDPglucose-Hexose-1-Phosphate Uridylyltransferase; 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, Galactose Epimerase; Deficiency, Galactose-1-Phosphate Uridyltransferase; Deficiency, UDP-Galactose-4-Epimerase; Deficiency, UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Galactokinase Deficiency Diseases; Galactose 1 Phosphate Uridyltransferase Deficiency; Galactose Epimerase Deficiencies; Galactose-1-Phosphate Uridyltransferase Deficiencies; Galactosemia 3s; Galactosemias, Classic; UDP Galactose 4 Epimerase Deficiency; UDP-Galactose-4-Epimerase Deficiencies; UDP-Galactose-4-Epimerase Deficiency Diseases; UDPglucose 4 Epimerase Deficiency Disease; UDPglucose Hexose 1 Phosphate Uridylyltransferase Deficiency; UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiencies; 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, UDPglucose-Hexose-1-Phosphate; Uridylyltransferase Deficiency, UDPglucose-Hexose-1-Phosphate; Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease; UDPglucose 4-Epimerase Deficiency Disease; UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency
Networked: 648 relevant articles (8 outcomes, 49 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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


1. Fridovich-Keil, Judith L: 27 articles (06/2015 - 01/2005)
2. Berry, Gerard T: 16 articles (01/2015 - 01/2004)
3. Timson, David J: 13 articles (11/2014 - 04/2003)
4. Segal, Stanton: 10 articles (05/2008 - 01/2002)
5. Rubio-Gozalbo, M Estela: 9 articles (03/2015 - 11/2006)
6. Segal, S: 9 articles (08/2001 - 02/2000)
7. Lai, Kent: 8 articles (02/2015 - 07/2004)
8. Elsas, L J: 8 articles (12/2010 - 03/2000)
9. Yager, Claire: 8 articles (07/2010 - 01/2002)
10. Berry, G T: 8 articles (08/2001 - 08/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Galactosemias:
1. UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA
2. Galactose (Galactopyranose)FDA LinkGeneric
3. galactose-1-phosphateIBA
4. Pyruvic Acid (Pyruvate)IBA
5. CarbohydratesIBA
6. Hemoglobins (Hemoglobin)IBA
7. Coenzyme A (CoA)IBA
8. formic acid (formate)IBA
9. methylcrotonoyl-CoA carboxylaseIBA
10. A 7 (A-7)IBA

Therapies and Procedures

1. Oral Administration
2. Erythrocyte Transfusion
3. Drug Therapy (Chemotherapy)
4. Diet Therapy (Therapy, Diet)
5. Blood Transfusion (Blood Transfusions)