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

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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.

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Acknowledgments

We would like to thank N. Alon and L. Golan for their editorial assistance.

Conflict of Interest

The authors declare that they have no conflict of interest, financial or otherwise, in connection with the paper.

Author information

Author notes

  1. Paulina Navon-Elkan

    Present address: Pediatric Day Care, Shaare Zedek Medical Center, Jerusalem, Israel

  2. David Branski

    Present address: Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel

Authors and Affiliations

  1. Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, Israel

    Aharon Klar, Paulina Navon-Elkan, David Branski & Haggit Hurvitz

  2. Division of Rheumatology, Department of Internal Medicine, Hadassah Medical Center, Jerusalem, Israel

    Alan Rubinow

  3. Metabolic Laboratory, Department of Clinical Genetics Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark

    Ernst Christensen

  4. Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel

    Morad Khayat & Tzipora C. Falik-Zaccai

  5. Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel

    Tzipora C. Falik-Zaccai

  6. Pediatrics Gastroenterology Unit, Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, 91004, Israel

    Aharon Klar

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  1. Aharon Klar
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Correspondence to Aharon Klar.

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Klar, A., Navon-Elkan, P., Rubinow, A. et al. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Eur J Pediatr 169, 727–732 (2010). https://doi.org/10.1007/s00431-009-1102-1

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  • DOI: https://doi.org/10.1007/s00431-009-1102-1

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