Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance

Eur J Pediatr. 1993 May;152(5):437-40. doi: 10.1007/BF01955906.


Three patients with lysinuric protein intolerance are reported. The first patient displayed severe haemolytic anaemia, bone marrow erythroblastophagocytosis, renal tubular disease and interstitial lung disease. Despite treatment with citrulline and low-protein diet, this child died at the age of 18 months. The second patient is now 24 years old and has chronic interstitial lung disease and focal renal glomerulosclerosis. The third patient, now 5 years old, has severe chronic interstitial lung disease. A 6-month treatment with prednisone was ineffective in the second and third patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Anemia, Hemolytic / etiology*
  • Anemia, Hemolytic / therapy
  • Bone Marrow Diseases / etiology*
  • Bone Marrow Diseases / therapy
  • Child, Preschool
  • Humans
  • Infant
  • Kidney Diseases / etiology*
  • Kidney Diseases / therapy
  • Lysine / metabolism*
  • Male
  • Prognosis
  • Pulmonary Fibrosis / etiology*
  • Pulmonary Fibrosis / therapy
  • Time Factors


  • Lysine