ÖZ Objective: Lysosomal storage diseases which were first described in 1880; are important group of metabolic disorders characterized by the deposition of the substrates in lysosomes due to defects of the activity or transport of lysosomal enzymes or a defect in the receptor proteins. LSDs usually show a progressive clinical course and may not be represented with any clinical signs during the neonatal period. The overall prevalence of LSDs is 1 / 7000-8000. The aim of this study was to share

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... clinical characteristics of our LSDs patients and the experiences of our pediatric metabolic diseases department. Material and Methods : This retrospective cohort study was conducted at Kırıkkale University Hospital with 56 patients diagnosed as lysosomal storage disease among 315 patients diagnosed with metabolic diseases. Data were collected from outpatient clinic patient files who were diagnosed between 2011-2018. Anahtar Kelimeler: Lizozomal lipid depo hastalığı, mukopolisakkaridozlar, enzim replasman tedavisi Alpcan A et al. KÜ Tıp Fak Derg 2020;22(3):310-313 Lysosomal Storage Diseases