Immunological abnormality in patients with lysinuric protein intolerance

J Neurol Sci. 1995 Dec;134(1-2):178-82. doi: 10.1016/0022-510x(95)00237-1.

Abstract

Lysinuric protein intolerance (LPI) is a rare hereditary disorder manifesting hyperammonemia induced by low levels of basic amino acids, these low levels being due to the impaired transport of these acids in the intestinal mucosa and the renal tubules. Low serum arginine levels and probably the consequently low in vivo levels of nitric oxide (NO), which against acts as a physiological and immunological mediator/modulator, are thought to influence the immunological status in patients with LPI. Accordingly, this study was conducted to. We found that patients with LPI had leukocytopenia, high serum IgG levels, a high ratio of CD44B4-positive lymphocytes (helper inducer) to CD42H4-positive lymphocytes (suppressor inducer), low levels of leukocyte phagocytic, cytotoxic, and natural killer cell activity, and increased spontaneous proliferation of lymphocytes. These results were probably the consequence of persistent low NO levels in vivo.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / immunology*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Arginine / blood
  • Female
  • Humans
  • Immune System Diseases / blood
  • Immune System Diseases / urine*
  • Lysine / urine*
  • Male
  • Nitric Oxide / blood

Substances

  • Nitric Oxide
  • Arginine
  • Lysine