[Pathological findings in galactosemia caused by a galactose-1-phosphaturidyltransferase defect (author's transl)].
In the past, galactosemis was considered to be one disorder; today it is subdivided into various enzymopathies. The enzymopathy occuring most frequently is the disorder with galactose-i-phosphaturidyl transferase. The morphologic equivalent of this desease was described on the basis of two letal cases involving siblings. The parents and the third child in this family (born 6 years later) showed only a 50% reduction in galactose-1-phosphaturidyltransferease activity in the erythrocytes. This was a heterozygous form of glactosemia without manifestations.
D001344:Autopsy; D005260:Female; D005693:Galactosemias / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D009713:Nucleotidyltransferases / Q000172:deficiency*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency*
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
Pathologisch-anatomische Befunde bei Galaktosämie durch Galaktose-1-Phosphaturidyltransferase-Defekt