Iminoglycinuria in a child in Czechoslovakia

Summary The child with iminoglycinuria is in our observation. Hyperprolinuria was seen at 5 months by screening program. The child was repeatedly examined in the hospital and was seen last time at 16 months. IQ was 67, in the urine were excessive amounts of glycine, proline a hydroxyproline. In the blood aminoacids were in normal levels. In the child was noticed the same increase of proline in the blood as in the control child of the same age following loading test with L-proline, indicating normal intestinal absoption. Both parents and father's sister's 2-year-old mentally retarded child exhibit excessive glycinuria. The father, his sister, father's father, and grandfather are partialy, congenitaly deaf.