TY - JOUR
T1 - Prolidase deficiency
T2 - It looks like systemic lupus erythematosus but it is not
AU - Klar, Aharon
AU - Navon-Elkan, Paulina
AU - Rubinow, Alan
AU - Branski, David
AU - Hurvitz, Haggit
AU - Christensen, Ernst
AU - Khayat, Morad
AU - Falik-Zaccai, Tzipora C.
PY - 2010/6
Y1 - 2010/6
N2 - 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.
AB - 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.
KW - Mutation
KW - Prolidase deficiency
KW - Systemic lupus erythematosus (SLE)
UR - http://www.scopus.com/inward/record.url?scp=77952095497&partnerID=8YFLogxK
U2 - 10.1007/s00431-009-1102-1
DO - 10.1007/s00431-009-1102-1
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C2 - 19937054
AN - SCOPUS:77952095497
SN - 0340-6199
VL - 169
SP - 727
EP - 732
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 6
ER -