Search on: GALACTOSEMIAS 
Descriptors Found: 1
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Descriptor English:   Galactosemias 
Descriptor Spanish:   Galactosemias 
Descriptor Portuguese:   Galactosemias 
Synonyms English:   Classic Galactosemia
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, Galactokinase
Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase
Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase
Deficiency Disease, UDP Galactose 4 Epimerase
Deficiency Disease, UDP-Galactose-4-Epimerase
Deficiency Disease, UDPglucose 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 Galactosemia
Epimerase Deficiency Galactosemias
GALE Deficiencies
GALE Deficiency
GALK Deficiencies
GALK Deficiency
GALT Deficiencies
GALT Deficiency
Galactokinase Deficiencies
Galactokinase Deficiencies, Hereditary
Galactokinase Deficiency
Galactokinase Deficiency Disease
Galactokinase Deficiency Diseases
Galactokinase Deficiency, Hereditary
Galactose 1 Phosphate Uridyl Transferase Deficiency Disease
Galactose 1 Phosphate Uridyltransferase Deficiency
Galactose 1 Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiencies
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Galactose-1-Phosphate Uridyltransferase Deficiencies
Galactose-1-Phosphate Uridyltransferase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiencies
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia
Galactosemia 2
Galactosemia 2s
Galactosemia 3
Galactosemia 3s
Galactosemia III
Galactosemia IIIs
Galactosemia, Classic
Galactosemia, Epimerase Deficiency
Galactosemias, Classic
Galactosemias, Epimerase Deficiency
Hereditary Galactokinase Deficiencies
Hereditary Galactokinase Deficiency
UDP Galactose 4 Epimerase Deficiency
UDP Galactose 4 Epimerase Deficiency Disease
UDP-Galactose-4-Epimerase Deficiencies
UDP-Galactose-4-Epimerase Deficiency
UDP-Galactose-4-Epimerase Deficiency Disease
UDP-Galactose-4-Epimerase Deficiency Diseases
UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency
UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency
UDPglucose 4 Epimerase Deficiency Disease
UDPglucose 4-Epimerase Deficiency Disease
UTP Hexose 1 Phosphate Uridylyltransferase Deficiency
UTP Hexose 1 Phosphate Uridylyltransferase 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  
Tree Number:   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
Definition English:   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) 
See Related English:   Galactokinase
Galactose
UDPglucose 4-Epimerase
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
UTP-Hexose-1-Phosphate Uridylyltransferase
 
History Note English:   2000(1966) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   5832 
Unique Identifier:   D005693 

Occurrence in VHL:
 

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