Audiologic evaluations of children with mucopolysaccharidosis


Gokdogan C., Altınyay Ş., Gokdogan O., Tutar H., Gündüz B., Okur İ., ...More

BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY, vol.82, no.3, pp.281-284, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 82 Issue: 3
  • Publication Date: 2016
  • Doi Number: 10.1016/j.bjorl.2015.05.007
  • Journal Name: BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.281-284
  • Keywords: Mucopolysaccharidosis, Hearing loss, Audiologic evaluation, MANIFESTATIONS
  • Gazi University Affiliated: Yes

Abstract

Introduction: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients.