Galactosemias

Galaktosemier

Svensk definition

En grupp ärftliga enzymbristtillstånd med förhöjda värden av galaktos i blodet som typiskt symtom. Tillståndet kan förknippas med brist på galaktokinas, UDP-glukos-hexos-1-fosfaturidylyltransferas eller UDP-glukos-4-epimeras. Den klassiska formen beror på brist på UDP-glukos-hexos-1-fosfaturidylyltransferas och yttrar sig hos barn som hämmad tillväxt, kräkningar och förhöjt intrakraniellt tryck. Individer med sjukdomen kan även drabbas av psykisk funktionsnedsättning, gulsot, förstorad lever och mjälte, ovarialsvikt och katarakt (starr).

Engelsk definition

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)

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Galactosemia — Galactokinase Deficiency Disease — Galactokinase Deficiency Diseases — Deficiency Disease, Galactokinase — Galactokinase Deficiency — Deficiencies, Galactokinase — Deficiency, Galactokinase — Galactokinase Deficiencies — Galactosemia 2 — Galactosemia 2s — GALK Deficiency — Deficiencies, GALK — Deficiency, GALK — GALK Deficiencies — Hereditary Galactokinase Deficiency — Deficiencies, Hereditary Galactokinase — Deficiency, Hereditary Galactokinase — Galactokinase Deficiencies, Hereditary — Galactokinase Deficiency, Hereditary — Hereditary Galactokinase Deficiencies — Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease — Galactose 1 Phosphate Uridyl Transferase Deficiency Disease — Classic Galactosemia — Classic Galactosemias — Galactosemias, Classic — 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 Deficiencies — Galactose 1 Phosphate Uridyltransferase Deficiency — Uridyltransferase Deficiencies, Galactose-1-Phosphate — Uridyltransferase Deficiency, Galactose-1-Phosphate — Galactose-1-Phosphate Uridylyltransferase Deficiency — Deficiencies, Galactose-1-Phosphate Uridylyltransferase — Deficiency, Galactose-1-Phosphate Uridylyltransferase — Galactose-1-Phosphate Uridylyltransferase Deficiencies — Galactose 1 Phosphate Uridylyltransferase Deficiency — Uridylyltransferase Deficiencies, Galactose-1-Phosphate — Uridylyltransferase Deficiency, Galactose-1-Phosphate — 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 — UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease — UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease — UDPglucose 4-Epimerase Deficiency Disease — UDPglucose 4 Epimerase Deficiency Disease — Deficiency Disease, UDP-Galactose-4-Epimerase — Deficiency Diseases, UDP-Galactose-4-Epimerase — Deficiency Disease, UDP Galactose 4 Epimerase — UDP-Galactose-4-Epimerase Deficiency Diseases — Deficiency Disease, UDPglucose 4-Epimerase — Deficiency Disease, UDPglucose 4 Epimerase — Galactose Epimerase Deficiency — Deficiencies, Galactose Epimerase — Deficiency, Galactose Epimerase — Galactose Epimerase Deficiencies — Galactosemia 3 — Galactosemia 3s — 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 Deficiencies — UDP Galactose 4 Epimerase Deficiency — UDP-Galactose-4-Epimerase Deficiency Disease — UDP Galactose 4 Epimerase Deficiency Disease