Lysinuric protein intolerance masquerading as celiac disease: A case report Academic Article Article uri icon


MeSH Major

  • Adenoma, Liver Cell
  • Biomarkers, Tumor
  • Hepatocyte Nuclear Factor 1-alpha
  • Incidental Findings
  • Liver Neoplasms
  • Mutation
  • Positron-Emission Tomography


  • A 5 1/2-year-old boy presented with delayed growth, chronic diarrhea, and hypoproteinemia. Clinical presentation, initial laboratory data, and evaluation of an intestinal biopsy specimen suggested a diagnosis of celiac disease. Symptoms did not resolve on a gluten-free diet. The development of hyperammonemia prompted further studies that led to the diagnosis of lysinuric protein intolerance. Lysinuric protein intolerance, although a rare disorder, should be included in the differential diagnosis of conditions associated with intestinal villous atrophy.

publication date

  • March 4, 1998



  • Academic Article


Digital Object Identifier (DOI)

  • 10.1016/S0022-3476(98)70502-5

PubMed ID

  • 9470018

Additional Document Info

start page

  • 153

end page

  • 5


  • 132


  • 1