Prolidase deficiency: It looks like systemic lupus erythematosus but it is not

Aharon Klar, Paulina Navon-Elkan, Alan Rubinow, David Branski, Haggit Hurvitz, Ernst Christensen, Morad Khayat, Tzipora C. Falik-Zaccai

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

Three siblings with recalcitrant leg ulceration, splenomegaly, photosensitive rash, and autoantibodies were suspected of having prolidase deficiency. Urine was checked for iminodipeptiduria, fibroblasts were cultured and analyzed for prolidase activity, and DNA was extracted for identifying the causative mutation. Glycyl proline was found as the dominant dipeptide in the urine. The activity of proline dipeptidase in fibroblasts was 2.5% of control fibroblasts. Sequence analysis of the PEPD gene revealed a homozygous nonsense C→G transition at nucleotide 768. In conclusion, prolidase deficiency was diagnosed in siblings with skin ulceration autoantibodies and a lupus-like disease. A novel nonsense mutation was found, associated with the severe outcome of our patients.

Original languageEnglish
Pages (from-to)727-732
Number of pages6
JournalEuropean Journal of Pediatrics
Volume169
Issue number6
DOIs
StatePublished - Jun 2010
Externally publishedYes

Keywords

  • Mutation
  • Prolidase deficiency
  • Systemic lupus erythematosus (SLE)

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