DIETARY TREATMENT IN HYPERPROLINAEMIA TYPE II

. Similä, S. (Department of Paediatrics, University of Oulu, Oulu, Finland). Dietary treatment in hyperprolinaemia Type II. Acta Paediat Scand 63:249, 1974.–Hyperprolinaemia type II was diagnosed in a half‐year‐old boy (prohand) with convulsions and an encephalitis‐like period, and his symptomless brother aged 7 years. The plasma levels of proline were greatly elevated, 39.8 and 38.4 mg/100 ml, respectively. The urinary excretion of free proline and δ'‐pyrroline‐5‐carhoxylic acid (SPC) was increased. Reduction of the dietary proline of the prohand after the first encephalitis‐like period at the age of 7 months resulted in a slight decline of the plasma proline level and of the urinary excretion of proline and SPC. After a 14‐month dietary period convulsions began to recur, and an encephalitis‐like period followed. Thereafter, with a more restricted proline (90 mg/kg per day) intake, the decline of the plasma level of proline was clear. During a 3 years' period of dietary treatment the patient's growth and mental development were satisfactory, hut the electroencephalogram abnormalities remained. Restriction of dietary proline in the hyperprolinaemic brother resulted in a prompt fall of the plasma level of proline. The restriction of proline, however, did not normalize the elevated plasma level of proline, and the urinary excretion of 5PC did not cease completely. These results suggest that endogenous synthesis is not an important source of circulating proline. Restriction of dietary proline in hyperprolinaemia type II may be necessary during infancy at least if the plasma level of proline is greatly elevated as in our prohand.