PubMed · 1951 · 33 citations · 0 references
MedicineEndocrinologyPathologyAutopsy PathologyGastroenterologyHepatologyCirrhosisHepatic PathologyHepatobiliary DiseaseHepatobiliary PathologyLiver DiseaseMetabolic Liver DiseaseAutopsy Findings CorrelationFatty InfiltrationGalactose Metabolic DisordersGalactose-1-phosphate Uridyltransferase DeficiencyGalactose-1-phosphate Uridylyltransferase DeficiencyInborn Errors Of Galactose MetabolismMacroscopic Autopsy FindingsMetabolic Consequences Of Galactosemia
Four cases of galactosemia are presented; three occurred in one family. Autopsy findings on one case revealed portal cirrhosis and fatty infiltration of the liver. The etiology of hepatomegaly and the genetic aspects of the disease are discussed. The importance of identifying the reducing substance in patients with glycosuria is emphasized by the cases reported here.