| Title | Lysinuric protein intolerance masquerading as celiac disease: a case report. |
| Publication Type | Journal Article |
| Year of Publication | 1998 |
| Authors | Reinoso MA, Whitley C, Jessurun J, Schwarzenberg SJ |
| Journal | J Pediatr |
| Volume | 132 |
| Issue | 1 |
| Pagination | 153-5 |
| Date Published | 1998 Jan |
| ISSN | 0022-3476 |
| Keywords | Amino Acid Metabolism, Inborn Errors, Biopsy, Celiac Disease, Child, Preschool, Diagnosis, Differential, Diarrhea, Duodenum, Growth Disorders, Humans, Hypoproteinemia, Lysine, Male |
| 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. |
| DOI | 10.1016/s0022-3476(98)70502-5 |
| Alternate Journal | J Pediatr |
| PubMed ID | 9470018 |
Related Faculty:
Jose Jessurun, M.D.