hyperprolinemia /hī′pərprō′linē′mē·ə/ , an autosomal-recessive aminoacidopathy characterized by an excess of proline in the body fluids and occurring as two types, I and II, each of which is caused by deficiency in a different enzyme involved in proline metabolism. Type 1 is associated with renal disease and type 2 with cognitive impairment and convulsions.
