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

European Journal of Pediatrics

Volumn 169, Issue 6, 2010, Pages 727-732

  Klar, Aharon ^a   Navon Elkan, Paulina ^a,f   Rubinow, Alan ^b   Branski, David ^a,b   Hurvitz, Haggit ^a   Christensen, Ernst ^c   Khayat, Morad ^d   Falik Zaccai, Tzipora C ^d,e  

^a BIKUR CHOLIM HOSPITAL   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c Rigshospitalet   (Denmark)

^d WESTERN GALILEE HOSPITAL   (Israel)

^e TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^f SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Mutation; Prolidase deficiency; Systemic lupus erythematosus (SLE)

Indexed keywords

ASCORBIC ACID; AUTOANTIBODY; CYTOSINE; DAPSONE; GLYCINE; GLYCYLPROLINE; GUANINE; METHOTREXATE; NIFEDIPINE; PREDNISONE; PROLINE; PROLINE DIPEPTIDASE; ZINC;

ARTICLE; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; HUMAN; IMINODIPEPTIDE URINE LEVEL; LEG ULCER; MALE; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PATIENT COMPLIANCE; PHOTOSENSITIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROLIDASE DEFICIENCY; PROTEINURIA; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SPLENOMEGALY; SYSTEMIC LUPUS ERYTHEMATOSUS; TREATMENT FAILURE; URINALYSIS;

CHILD; CHILD, PRESCHOOL; DELAYED DIAGNOSIS; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HUMANS; LEG ULCER; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MUTATION, MISSENSE; PROLIDASE DEFICIENCY; SIBLINGS; SPLENOMEGALY;

EID: 77952095497     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1102-1     Document Type: Article

References (25)

1. B Beck E Christensen NJ Brandt 1981 Forminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease J Inher Metabol Dis 4 225 228 10.1007/BF02263657 1:STN:280:DyaL38%2FnvFWhtQ%3D%3D
2. H Ben-Bassat A Eldad M Chaouat, et al. 1992 Structural and functional evaluation of modifications in the composite skin graft: cryopreserved dermis and cultured keratinocytes Plast Reconstr Surg 89 510 520 10.1097/00006534- 199203000-00020 1:STN:280:DyaK387lvFaktQ%3D%3D 1535839
3. R Bissonete D Friedmann JM Giroux, et al. 1993 Prolidase deficiency: a multisystemic hereditary disorder J Am Acad Dermatol 29 818 821 10.1016/0190-9622(93)70245-O
4. KR Chen JA Carlson 2008 Clinical approach to cutaneous vasculitis Am J Clin Dermatol 9 71 92 10.2165/00128071-200809020-00001 18284262 (Pubitemid 351280952)
5. E Christensen 1983 Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I Clin Chim Acta 129 91 97 10.1016/0009-8981(83)90155-9 1:CAS:528:DyaL3sXhslGgtrk%3D 6687844 (Pubitemid 13113763)
6. M Di Rocco AR Fanmtasia M Taro, et al. 2007 Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency J Inherit Metab Dis 30 814 10.1007/s10545-007-0496-z 17570078
7. Falik-Zaccai TC, Khayat M, Luder A et al (Mar 23 2009) A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Am J Med Genet B Neuropsychiatr Genet (in press)
8. SI Goodman CC Solomons F Muschenheim, et al. 1968 A syndrome resembling lathyrism associated with iminodipeptiduria Am J Med 45 152 159 10.1016/0002-9343(68)90016-8 1:STN:280:DyaF1czhsVCrsQ%3D%3D 4968882
9. T Hershkovitz G Hassoun M Indelman, et al. 2006 A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome Clin Exp Dermatol 31 435 440 10.1111/j.1365-2230.2006. 02112.x 1:STN:280:DC%2BD283lslektA%3D%3D 16681595
10. SH Jackson AW Dennis M Greenberg 1975 Iminodipeptiduria. A genetic defect in recycling collagen; a method for determining prolidase in erythrocytes Can Med Assoc J 113 759 763 1:STN:280:DyaK3c3htlelsQ%3D%3D 803128
11. GB Jemec AT Moe 1996 Topical treatment of skin ulcres in prolidase deficiency Pediatr Dermatol 13 58 60 10.1111/j.1525-1470.1996.tb01191.x 1:STN:280:DyaK2s%2FnvVKjtw%3D%3D 8919529
12. RAW Johnstone JT Povall D Baty 1974 Determination of dipeptides in urine Clin Chim Acta 52 137 142 10.1016/0009-8981(74)90203-4 1:STN:280: DyaE2c7mtlalug%3D%3D 4828226
13. BT Kurien NC Patel AC Porter, et al. 2006 Prolidase deficiency and the biochemical assays used in its diagnosis Anal Biochem 349 165 175 10.1016/j.ab.2005.10.018 1:CAS:528:DC%2BD28XhtFWhs7w%3D 16298326 (Pubitemid 43184297)
14. I Lopes L Marques E Neves, et al. 2002 Prolidase deficiency with hyperimmunoglobulin E: a case report Pediatr Allergy Immunol 13 140 142 10.1034/j.1399-3038.2002.00075.x 1:STN:280:DC%2BD383mtFCgsA%3D%3D 12000488 (Pubitemid 34525184)
15. A Lupi A Rossi E Campari, et al. 2006 Molecular characterization of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family J Med Genet 43 e58 10.1136/jmg.2006.043315 1:STN:280:DC%2BD28jgsVKltA%3D%3D 17142620
16. A Lupi R Tenni A Rossi, et al. 2008 Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations Amino Acids 35 739 752 10.1007/s00726-008-0055-4 1:CAS:528:DC%2BD1cXht1ais77N 18340504
17. HR Maricq G Spencer-Green EC Leryo 1987 Skin capillary abnormalities as indicators of organ involvement in scleroderma (systemic sclerosis), Raynaud's syndrome and dermatomyositis Am J Med 61 862 870 10.1016/0002-9343(76)90410-1
18. I Myara C Charpentier Lemonnier 1987 Prolidase and prolidase deficiency. A mini review Life Sci 34 1985 1998 10.1016/0024-3205(84)90363-1
19. PS Pedersen E Christensen NJ Brandt 1983 Prolidase deficiency Acta Paediatr Scand 72 785 10.1111/j.1651-2227.1983.tb09815.x 1:STN:280: DyaL2c%2FkvVCjug%3D%3D 6637477
20. GP Powell MA Rasco RM Maniscalco 1974 A prolidase deficiency in man with iminopeptiduria Metabolism 23 505 513 10.1016/0026-0495(74)90078-X 1:STN:280:DyaE2c7mtlygsQ%3D%3D 4828441
21. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning. A laboratory manual. Cold Spring Harbor Laboratory Press, New York
22. LJ Sheffield P Schlesinger K Faull, et al. 1997 Iminopeptiduria, skin ulceration, and edema in a boy with prolidase deficiency J Pediatr 91 578 583
23. M Shrinath JH Walter M Haeney, et al. 1997 Prolidase deficiency and systemic lupus erythematosus Arch Dis Child 76 441 444 10.1136/adc.76.5.441 1:STN:280:DyaK2szjvFyjug%3D%3D 9196362
24. EM Tan AS Cohen JF Fries, et al. 1982 The1982 revised criteria for the classification of systemic lupus erythematosus Arthritis Rheum 25 1271 1277 10.1002/art.1780251101 1:STN:280:DyaL3s%2FkvVCmtA%3D%3D 7138600 (Pubitemid 13221242)
25. H Wang BT Kurien D Lundgrn, et al. 2006 A nonsense mutation of PEPD in four Amish children with prolidase deficiency Am J Med Genet A 140 580 585 16470701