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Type I hyperprolinemia

The Indian Journal of Pediatrics volume 67, pages 541–543 (2000)Cite this article

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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Affiliations

  1. Department of Pediatrics, Vanivilas Children’s Hospital, Bangalore Medical College, 560029, Bangalore

    Shivananda & Prem Kumar

  2. Associate Professor, Clinical Biochemistry Unit Department of Neurochemistry, National Institute of Mental Health & Neurosciences, 560029, Bangalore

    Rita Christopher MD

Authors
  1. Shivananda
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  2. Rita Christopher MD
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  3. Prem Kumar
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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

Key words

  • Hyperprolinemia
  • Prolinuria
  • Proline oxidase