Audiologic evaluations of children with mucopolysaccharidosis


Gokdogan C., ALTINYAY Ş. , Gokdogan O., TUTAR H. , GÜNDÜZ B. , OKUR İ. , ...Daha Fazla

BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY, cilt.82, sa.3, ss.281-284, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 82 Konu: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.bjorl.2015.05.007
  • Dergi Adı: BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY
  • Sayfa Sayıları: ss.281-284

Özet

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.