Familial Hyperprolinemia, Cerebral Dysfunction and Renal Anomalies Occurring in a Family with Hereditary Nephropathy and Deafness

Abstract

This report presents clinical, genetic and biochemical studies of a family with cerebral dysfunction, congenital renal anomalies and a defect in the metabolism of the amino acid L-proline. In addition, certain family members have microscopic hematuria or nerve deafness or both.A hereditary nephropathy characterized by hematuria or pyelonephritis, or both, with nerve deafness, has been documented in at least 13 families.1 2 3 Cerebral dysfunction, renal malformations or a defect in amino acid metabolism has not previously been described in association with this syndrome.Clinical Summary of the Index CaseThe family was brought to our attention when F.M. (IV:D5), a . . .