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  • Title: Type I hyperprolinemia.
    Author: Shivananda, Christopher R, Kumar P.
    Journal: Indian J Pediatr; 2000 Jul; 67(7):541-3. PubMed ID: 10957843.
    Abstract:
    Type I hyperprolinemia is an autosomal recessive disorder characterized by increased plasma and urine proline concentrations due to a deficiency of the enzyme, proline oxidase. This rare inborn error of proline metabolism is generally believed to be a benign condition although many associated clinical abnormalities have been reported. We report two siblings with Type I hyperprolinemia who presented with recurrent seizures. They had elevated plasma proline levels with massive prolinuria without an increased urinary excretion of delta 1-pyrolline-carboxylic acid.
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