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Galactosemias
(Galactosemia)
Summary
Description:
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 Show All >>
Networked: 648
relevant articles (8 outcomes,
49 trials/studies)
for this Disease
Key Drugs and Agents for Galactosemias
Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
-
UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)
:
2 outcomes 4 studies in 87 results
: IBA
-
Galactose (Galactopyranose)
:
1 outcome 12 studies in 262 results
:
FDA 3
Generic
-
galactose-1-phosphate
:
1 outcome 5 studies in 98 results
: IBA
-
Pyruvic Acid (Pyruvate)
:
1 outcome 1 study in 2 results
: IBA
-
Carbohydrates
:
1 outcome in 7 results
: IBA
-
Hemoglobins (Hemoglobin)
:
1 outcome in 6 results
: IBA
-
Coenzyme A (CoA)
:
1 outcome in 1 result
: IBA
-
formic acid (formate)
:
1 outcome in 1 result
: IBA
-
methylcrotonoyl-CoA carboxylase
:
1 outcome in 1 result
: IBA
-
A 7 (A-7)
:
1 outcome in 1 result
: IBA
Show All >>
Diseases Related to Galactosemias
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Homocystinuria
-
Tyrosinemias (Tyrosinemia)
-
Fructose Intolerance (Intolerance, Fructose)
-
Maple Syrup Urine Disease
-
Congenital Disorders of Glycosylation
Show All >>
Key Therapies for Galactosemias
Efficacy Chart >>
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Oral Administration
:
1 study in 1 result
-
Erythrocyte Transfusion
:
3 results
-
Drug Therapy (Chemotherapy)
:
3 results
-
Diet Therapy (Therapy, Diet)
:
3 results
-
Blood Transfusion (Blood Transfusions)
:
2 results
Show All >>
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