Lysinuric protein intolerance masquerading as celiac disease: A case report

M. A. Reinoso, C. Whitley, J. Jessurun, S. J. Schwarzenberg

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


A 5 1/4 -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.

Original languageEnglish (US)
Pages (from-to)153-155
Number of pages3
JournalJournal of Pediatrics
Issue number1
StatePublished - Jan 1 1998

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