Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality.

A severe mentally retarded infant with type I hyperprolinemia associated with chromosomal abnormality is reported. The patient had a characteristic facial appearance of hyperprolinemia and suffered from convulsions after the age of 10 months. The child developed severe mental and motor retardation. The karyotype of the patient revealed partial duplication of the short arm in chromosome 10 using G banding techniques. The patient and her mother showed a fasting hyperprolinemia and an abnormal clearance curve after the proline load in the serum. The proline oxidase activities of the liver tissues obtained by biopsy in the patient was about 9% of those of controls. Kinetic studies and mixed experiments of the enzyme were with normal limits. Restriction of dietary proline at the age of 12 months revealed a prompt fall of the plasma levels of proline to the normal range, and a low proline diet was continued until the present time. During the period of dietary treatment, growth was satisfactory, but her mental development did not improve. From the developmental patterns of proline oxidase activities postnataldy, we speculated that restriction of dietary proline intake should be relieved with age.