Type I hyperprolinemia.
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Date
2000-07-25
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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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Shivananda , Christopher R, Kumar P. Type I hyperprolinemia. Indian Journal of Pediatrics. 2000 Jul; 67(7): 541-3