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 \gD{su1}-pyrolline-carboxylic acid.
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Shivananda, Christopher, R. & Kumar, P. Type I hyperprolinemia. Indian J Pediatr 67, 541–543 (2000). https://doi.org/10.1007/BF02760491
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DOI: https://doi.org/10.1007/BF02760491