Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Kisa P., Kose E., Atesoglu M., ARSLAN N.

JOURNAL OF PEDIATRIC RESEARCH, vol.4, no.2, pp.59-62, 2017 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 4 Issue: 2
  • Publication Date: 2017
  • Doi Number: 10.4274/jpr.15870
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.59-62
  • Keywords: Mucopolysaccharidosis, pediatrics, consanguinity, enzyme replacement therapy, ENZYME-REPLACEMENT THERAPY, SANFILIPPO SYNDROME, NATURAL-HISTORY, PREVALENCE, DIAGNOSIS, RATES
  • Dokuz Eylül University Affiliated: Yes


Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coarse facial features, organomegaly, and bone disease (dysostosis multiplex), with central nervous system abnormalities. Early diagnosis and treatment can improve outcomes in MPS. The aim of this study was to evaluate the demographic characteristics and clinical findings of our MPS patients.