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Familial lysinuric protein intolerance presenting as coma in two adult siblings

P J Shaw1, G Dale, D Bates

  • 1Department of Neurology, University of Newcastle upon Tyne, UK.

Journal of Neurology, Neurosurgery, and Psychiatry
|May 1, 1989
PubMed

Insights

Lysinuric protein intolerance (LPI), a metabolic disorder, can manifest in adulthood with hyperammonaemic coma. Early diagnosis and dietary protein restriction with citrulline supplementation can significantly improve patient outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Lysinuric protein intolerance (LPI) is an inherited metabolic disorder typically presenting in infancy.
  • Classic symptoms include failure to thrive and vomiting.
  • LPI results from defects in amino acid transport.

Observation:

  • Two adult patients presented with hyperammonaemic coma due to LPI.
  • Both patients had a history of underweight and intermittent childhood gastrointestinal issues.
  • They maintained normal intellect and health until their thirties due to unconscious dietary protein avoidance.

Findings:

  • LPI diagnosis should be considered in adults with unexplained recurrent coma and hyperammonaemia.
  • Dietary protein restriction is a key management strategy.
  • Citrulline supplementation can aid in clinical improvement.

Implications:

  • Highlights the importance of considering LPI in adult-onset hyperammonaemic coma.
  • Suggests that LPI may be underdiagnosed in adults.
  • Emphasizes the potential for significant clinical improvement with appropriate management.

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