GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Disorder of galactose metabolism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342745
Disease: Disorder of galactose metabolism
Disorder of galactose metabolism 		0.010 Biomarker disease BEFREE It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Galactosemias are inherited disorders of galactose metabolism due to deficiency in one of the three enzymes involved in the Leloir pathway: galactose-1-phosphate uridyltransferase, galactokinase, and uridine diphosphate (UDP)-galactose-4'-epimerase. 29261178 2018