Lens changes in a galactosemic fetus.
The first child of a Spanish-American couple died presumbably from galactosemia. Early in the mother's fourth pregnancy, the parents' red blood cell levels of galactose 1-phosphate uridyl transferase were measured and both parents were found to be heterozygous (carriers) for transferase deficiency. A prenatal diagnosis of galactosemia in the fetus was made with the aid of amniocentesis and tissue culture. Abortion was induced when the fetus was 5 months old. Biochemical studies of lung and liver tissues confirmed the diagnosis of galactosemia. Cataractous changes were found by electron microscopy in both fetal eyes. Lens epithelial cells showed degenerative changes and a tendency to proliferate into two cell layers. Edema, liquefaction, and a variation in density characterized the lens cells.
D000028:Abortion, Induced; D000649:Amniocentesis; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D005693:Galactosemias / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology*; D008099:Liver / Q000473:pathology; D008168:Lung / Q000473:pathology; D008854:Microscopy, Electron; D011247:Pregnancy; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase