| hyperprolinaemia | A metabolic disorder characterised by enhanced plasma proline concentrations and urinary excretion of proline, hydroxyproline, and glycine; autosomal recessive inheritance. Type I hyperprolinaemia is associated with a deficiency of proline oxidase and renal disease; Type II hyperprolinaemia is associated with a deficiency of d-pyrroline-5-carboxylate dehydrogenae and mental retardation. (05 Mar 2000) |
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