[Ophthalmologic follow-up examination in galactosemia (author's transl)].
In 1966, Thalhammer foundet "The Austrian Newborn Screening Program." Since 1969, we have examined 18 infants with galactosemia at 6 month to 8 year intervals. Even dense lens opacities often disappear with the correct dietary adjustment; progression of the cataract indicates failure to adhere to the prescribed diet.
D002386:Cataract / Q000209:etiology* / Q000517:prevention & control; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005693:Galactosemias / Q000150:complications* / Q000151:congenital / Q000178:diet therapy / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000178:diet therapy; D008297:Male; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
Ophthalmologische Verlaufsbeobachtung bei Galaktosämie.