Familial Hyperprolinemia

Abstract

HYPERPROLINEMIA is a familial disorder characterized by elevation of the plasma proline concentration and in some cases by an aminoaciduria consisting of increased excretion, not only of proline but also of hydroxyproline and sometimes glycine.^{1 , 2} Only 1 family with the disorder has been reported in the literature to date. In that family multiple disorders were present both in hyperprolinemic and in nonhyperprolinemic members. It was therefore impossible to determine whether there was any relation between the clinical findings and the biochemical defect.Another family with hyperprolinemia has now been studied; many members of this second family had renal disease of . . .