Familial lysinuric protein intolerance presenting as coma in two adult siblings.

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  • Author(s): Shaw PJ;Shaw PJ; Dale G; Bates D
  • Source:
    Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1989 May; Vol. 52 (5), pp. 648-51.
  • Publication Type:
    Case Reports; Journal Article
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE
    • Publication Information:
      Publication: London : BMJ Publishing Group
      Original Publication: London : British Medical Association
    • Subject Terms:
      Family* ; Family Health*; Amino Acid Metabolism, Inborn Errors/*complications ; Coma/*etiology ; Ornithine/*metabolism; Adult ; Amino Acid Metabolism, Inborn Errors/genetics ; Ammonia/blood ; Coma/genetics ; Humans ; Male ; Ornithine/urine
    • Abstract:
      Lysinuric protein intolerance (LPI) is an inborn error of metabolism which usually presents in infancy with failure to thrive and vomiting. Two patients are described who presented in adult life with hyperammonaemic coma due to LPI. Both had been underweight and had had intermittent gastrointestinal symptoms during childhood. They were of normal intellect and had maintained good health, until presentation in their thirties, by unconscious dietary protein avoidance. The diagnosis of LPI should be considered in patients who present with obscure relapsing coma associated with hyperammonaemia. Considerable clinical improvement may result from dietary protein restriction and citrulline supplementation.
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    • Accession Number:
      7664-41-7 (Ammonia)
      E524N2IXA3 (Ornithine)
    • Publication Date:
      Date Created: 19890501 Date Completed: 19890727 Latest Revision: 20190501
    • Publication Date:
      20231215
    • Accession Number:
      PMC1032181
    • Accession Number:
      10.1136/jnnp.52.5.648
    • Accession Number:
      2732736