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)
推出的年份: 2000(1966)
树号: 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 单一 ID: D005693
进入的组:
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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