title: Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.
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.
authors: Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, Israel. nalon@bikurholim.org.il
authors: Aharon
authors: A
authors: Klar
authors: Paulina
authors: P
authors: Navon-Elkan
authors: Alan
authors: A
authors: Rubinow
authors: David
authors: D
authors: Branski
authors: Haggit
authors: H
authors: Hurvitz
authors: Ernst
authors: E
authors: Christensen
authors: Morad
authors: M
authors: Khayat
authors: Tzipora C
authors: TC
authors: Falik-Zaccai
mesh_terms: D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007871:Leg Ulcer / Q000209:etiology*; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000175:diagnosis*; D008297:Male; D020125:Mutation, Missense; D056732:Prolidase Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D035781:Siblings; D013163:Splenomegaly / Q000209:etiology*