[Late diagnosis of classical galactosemia. An adult with special biochemistry].Tijdschr Kindergeneeskd. 1993 Oct; 61(5):188-90.TK
The atypical case history of a galactosemic patient who was not recognized as such until his 22nd year is described. As in classical galactosemia there was not found any galactose-1-phosphate uridyl transferase activity in the erythrocytes. However, after the patient was on a galactose-free diet, there was no demonstrable elevation of galactose-1-phosphate in the erythrocytes. We would advocate a limited screening on galactosemia.