[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)].
Activity of galactokinase (69 subjects) and galactose-1-phosphate uridyl transferase (92 subjects) were measured in haemolysed blood from children (predominantly of school age) with congenital cataract. chi2 tests, gene-frequency determination and metabolic-kinetic studies indicated that the changes in the lens in congenital cataract are partly due to a manifest or latent disorder of galactose metabolism, in particular a glactose-1-phosphate uridyl transferase defect.
D001317:Austria; D002386:Cataract / Q000151:congenital / Q000201:enzymology / Q000378:metabolism* / Q000517:prevention & control; D002648:Child; D002675:Child, Preschool; D004035:Diet Therapy; D005690:Galactose / Q000378:metabolism*; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D008722:Methods; D010770:Phosphotransferases / Q000097:blood*
D010770:Phosphotransferases; D005690:Galactose
Enzymaktivitätswerte des Galaktosestoffwechsels bei der sogenannten Cataracta congenita