ICNC Abstracts, ICNC 2018

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Lysosomal Storage Diseases: Experiences of Kırıkkale University
Selda Bülbül, Cansu Çelik, Elif Gökçe Ünal

Last modified: 2018-09-15


Lysosomal Storage diseases (LSDs) are rare metabolic disorders characterised by defects ofenzyme activities, transportation or receptor proteins. They are rare, however, in countrieslike Turkey, where relative marriages are usually high, they have higher incidence rates.Mucopolysaccaridosis, sphingolipidosis, and glycosphingolipidosis are the most commonlysosomal storage diseases. Aim of this study was to share our clinical experiences of LSDsand the clinic outcomes of the patients in general.Since 2011, Our Pediatric Metabolic Diseases Division performs services to the centralAnatolia, and it is the reference metabolism center in the region. 2430 patients have beenfollowed up since then, 207 patients received the diagnosis of Inherited Metabolic Disease.Out of 207, 53 (%25.6) were diagnosed as LSDs [10 Mucopolysaccaridosis, 1 Mucolipidosis(I-cell disease), 42 Sphingolipidosis (Niemann-Pick: 4, Krabbe: 1, Sandhoff:1 GM-1Gangliosidosis:1, oligosaccaridosis (beta mannosidosis): 1, Gaucher Disease :1 and FabryDisease: 33 patients)].When we exclude the adult Fabry Patients; the mean age of the 20 LSD patients ( 50.9% girlsand 49.1% boys) was 2.67±3.4 years. Among all, 6 were having malnutrition (26.6%) and 4short stature (%13.3). 14 patient had atypical facial appearance (%93.3), 12 hadhepatomegaly, (%80) 14 had abnormal bone structure (disostosis multiplex), 13 had mentalretardation and neuromotor developmental delay. Their diagnosis were corrected with thespecific enzyme analysis and/or genetic mutation analysis. 8 patients were lost due to severecomplications of the diseases. 24 patients are receiving enzyme replacement therapy atpresent.

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