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

Overview

abstract

  • 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

  • January 1, 1998

Research

keywords

  • Amino Acid Metabolism, Inborn Errors
  • Celiac Disease
  • Lysine

Identity

Scopus Document Identifier

  • 0031894812

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(98)70502-5

PubMed ID

  • 9470018

Additional Document Info

volume

  • 132

issue

  • 1