Number of the records: 1
galaktozémie
Record number d005693 Date 06.06.2025 Type M Topical term galaktozémie Other term English (Pseudonym) Galactokinase Deficiency Disease
English (Pseudonym) Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
English (Pseudonym) UDPglucose 4-Epimerase Deficiency Disease
Slovak (Pseudonym) choroba z deficitu galaktokinázy
Slovak (Pseudonym) choroba z deficitu galaktóza 1-fosfát uridyltransferázy
Slovak (Pseudonym) choroba z deficitu UDP-glukóza 4-epimerázy
See also (Later heading) galaktokináza
(Later heading) galaktóza
(Skutočné meno) galaktokináza
(Skutočné meno) galaktóza
(Skutočné meno) UTP-hexóza-1-fosfát-uridylyltransferáza
(Skutočné meno) UDP-glukóza-hexóza-1-fosfát-uridylyltransferáza
(Skutočné meno) UDP-glukóza 4-epimeráza
(Later heading) UTP-hexóza-1-fosfát-uridylyltransferáza
(Later heading) UDP-glukóza-hexóza-1-fosfát-uridylyltransferáza
(Later heading) UDP-glukóza 4-epimeráza
UDC C10.228.140.163.100.320C16.320.565.189.320C16.320.565.202.355C18.452.132.100.320C18.452.648.189.320C18.452.648.202.355 Note 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) 
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Number of the records: 1