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Kiykim E, Barut K, Cansever MS, et al. Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis. JIMD Rep. 2015;25:21-24doi: 10.1007/8904_2015_467.
Kiykim, E., Barut, K., Cansever, M. S., Zeybek, C. A., Zubarioglu, T., Aydin, A., & Kasapcopur, O. (2016). Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis. JIMD reports, 2521-24. https://doi.org/10.1007/8904_2015_467
Kiykim, Ertugrul, et al. "Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis." JIMD reports vol. 25 (2016): 21-24. doi: https://doi.org/10.1007/8904_2015_467
Kiykim E, Barut K, Cansever MS, Zeybek CA, Zubarioglu T, Aydin A, Kasapcopur O. Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis. JIMD Rep. 2016;25:21-24. doi: 10.1007/8904_2015_467. Epub 2015 Jun 30. PMID: 26122630; PMCID: PMC5059191.
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JIMD Rep. 2016;25:21-24. doi: 10.1007/8904_2015_467. Epub 2015 Jun 30.

Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis.

JIMD reports

Ertugrul Kiykim, Kenan Barut, Mehmet Serif Cansever, Cigdem Aktuglu Zeybek, Tanyel Zubarioglu, Ahmet Aydin, Ozgur Kasapcopur

Affiliations

  1. Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey. [email protected].
  2. Division of Rheumatology, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
  3. Central Laboratory, Istanbul University, Cerrahpasa Medical, Istanbul, Turkey.
  4. Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.

PMID: 26122630 PMCID: PMC5059191 DOI: 10.1007/8904_2015_467

Abstract

Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan degradation. Mucopolysaccharidosis type IX is the rarest form of mucopolysaccharidosis. To date, only four patients have been reported. The first reported patient had mild short stature and periarticular soft tissue masses; the other reported patients are clinically indistinguishable from juvenile idiopathic arthritis. In the present study, we screened mucopolysaccharidosis type IX among patients with juvenile idiopathic arthritis with hyaluronidase enzyme assay. One hundred and eight patients with JIA and 50 healthy age-matched control subjects were enrolled in the study. Among all patients, none had deficient hyaluronidase activity. Though serum Hyal-1 activity was significantly increased in JIA patients, compared with control subjects (p < 0.000), no correlation was found between CRP, ESR, and Hyal-1 activity (p = 0.187). In conclusion, the data reported in our study indicates that systemic metabolic investigation for hyaluronidase activity is not recommended in all patients with JIA.

Keywords: Hyaluronidase deficiency; Juvenile idiopathic arthritis; Mucopolysaccharidosis type IX

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