Bone marrow hemophagocytosis and immunological abnormalities in a patient with lysinuric protein intolerance

Acta Haematol. 1997;98(3):160-2. doi: 10.1159/000203612.

Abstract

Lysinuric protein intolerance (LPI) is an inborn error of amino acid transport characterized by a wide spectrum of clinical and biochemical abnormalities. Bone marrow hemophagocytosis in this disorder is an intriguing finding, present mostly in Italian patients. We report a 19-month-old Turkish infant with LPI, bone marrow hemophagocytosis, interstitial lung disease and immunological abnormalities unprecedented in the current literature. Possible etiologic factors responsible for hemophagocytosis and the differential diagnosis of hemophagic syndromes are discussed.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / immunology*
  • Amino Acid Metabolism, Inborn Errors / pathology
  • Bone Marrow Cells / immunology
  • Bone Marrow Cells / pathology*
  • Diagnosis, Differential
  • Humans
  • Infant
  • Lysine / metabolism*
  • Male
  • Phagocytosis*

Substances

  • Lysine