Lysinuric protein intolerance masquerading as celiac disease: a case report.

TitleLysinuric protein intolerance masquerading as celiac disease: a case report.
Publication TypeJournal Article
Year of Publication1998
AuthorsReinoso MA, Whitley C, Jessurun J, Schwarzenberg SJ
JournalJ Pediatr
Date Published1998 Jan
KeywordsAmino Acid Metabolism, Inborn Errors, Biopsy, Celiac Disease, Child, Preschool, Diagnosis, Differential, Diarrhea, Duodenum, Growth Disorders, Humans, Hypoproteinemia, Lysine, Male

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.

Alternate JournalJ Pediatr
PubMed ID9470018
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