Galactosemias [galaktosemie]
- Terms
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deficit galaktokinázy
deficit galaktosa-1-fosfát-uridyltransferázy
deficit galaktóza-1-fosfát uridyltransferázy
deficit galaktóza-1-fosfát-uridyltransferázy
deficit galaktózo-1-fosfát uridyltransferázy
deficit uridyldifosfátgalaktosa-4-epimerázy
deficit uridyldifosfátgalaktóza-4-epimerázy
deficit uridyldifosfátgalaktózo-4-epimerázy
galaktosémie
klasická galaktosemie
klasická galaktosémie
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Classic Galactosemia
Deficiency Disease, Galactokinase
Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase
Deficiency Disease, UDP-Galactose-4-Epimerase
Deficiency Disease, UDPglucose 4-Epimerase
Epimerase Deficiency Galactosemia
Galactokinase Deficiency
Galactokinase Deficiency Disease
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Galactose-1-Phosphate Uridyltransferase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia
Galactosemia 2
Galactosemia 3
Galactosemia III
Galactosemia, Classic
GALE Deficiency
GALK Deficiency
GALT Deficiency
Hereditary Galactokinase Deficiency
UDP-Galactose-4-Epimerase Deficiency
UDP-Galactose-4-Epimerase Deficiency Disease
UDPglucose 4-Epimerase Deficiency Disease
UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease
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)
- DUI
- D005693 MeSH Browser
- CUI
- M0008941
- History note
- 2000(1966)
- Public note
- 2000; see GALACTOSEMIA 1966-1999
Allowable subheadings
- BL
- blood 2
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 7
- DI
- diagnosis 14
- DG
- diagnostic imaging
- DH
- diet therapy 1
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology 1
- EP
- epidemiology 1
- EH
- ethnology 1
- ET
- etiology 10
- GE
- genetics 8
- HI
- history
- IM
- immunology
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality 1
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 1
- PC
- prevention & control 2
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 8
- UR
- urine 2
- VE
- veterinary
- VI
- virology