New approaches in diagnosis and treatment of lysosomal storage diseases Lizozomal depo hastahliklarinin tani ve tedavisinde yeni yaklaşimlar

Gelmez Beker D., Aliyazicioǧlu Y.

Ondokuz Mayis Universitesi Tip Dergisi, vol.19, no.1, pp.78-82, 2002 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 1
  • Publication Date: 2002
  • Journal Name: Ondokuz Mayis Universitesi Tip Dergisi
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.78-82
  • Keywords: Diagnosis, Lysosom, Storage disease, Treatment
  • Ondokuz Mayıs University Affiliated: Yes


Inborn errors of metabolism is a general term that is applied to numerous genetic disorders whose pathology is usually attributable to excessive tissue stores or circulating concentrations of a specific undegraded metabolite. Lysosomal storage diseases result from accumulation in lysosomes of metabolites that would normally be degraded by one of the many hydrolytic enzymes which reside in subcellular organelles. These specific enzyme deficiencies of lysosomal storage diseases have been identified by products stored in tissues. The nature of these storage products are identified to be sphingolipids and glycosaminoglycans.