[Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
The mother of a boy who suffered from classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency) has unilateral cataracta. In addition the boy had a decreased activity of the UDP-galactose-4-epimerase. The latter defect could also be demonstrated in the erythrocytes from the mother and the grandmother. In contrast to the finding of cataracta in the mother the grandmother with the same type of double heterozygosity was ophthalmologically normal. The implication of partial maternal disorders of galactose metabolism will be discussed in view of their possible role for the origin of cataracta.
Heyne
K
K
Klinik für Pädiatrie, Medizinischen Universität zu Lübeck.
Shin
Y S
YS
Schwinger
E
E
D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002386:Cataract / Q000201:enzymology / Q000235:genetics*; D005693:Galactosemias / Q000201:enzymology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009713:Nucleotidyltransferases / Q000172:deficiency*; D010375:Pedigree; D014534:UDPglucose 4-Epimerase / Q000172:deficiency*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency*
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D002238:Carbohydrate Epimerases; D014534:UDPglucose 4-Epimerase
Doppel-Heterozygotie (Transferase-/Epimerase-Defekt) und Galaktosämie-Katarakt.