Gaspar, PauloKallemeijn, WouterStrijland, AnnekeVan Eijk, MarcoVan Roomen, CindyOttenhoff, RoloefMirzaian, MinaFerraz, MariaDonker-Koopman, WilmaMacario, Maria do CarmoSaftig, PaulOverkleeft, HermanSá Miranda, ClaraAerts, Hans2018-04-042018-04-042017-03http://hdl.handle.net/10400.18/5527Sphingolipidoses comprise the most prevalent group of lysosomal storage disorders. The most frequent is Gaucher disease (GD), where it occurs the storage of the glycosphingolipid glucosylceramide (GlcCer) due to a deficiency in the enzyme glucocerebrosidase (GCase). GD is a multi-systemic disorder affecting most organs, resulting in cytopenia, hepatosplenomegaly and skeletal abnormalities. Only recently, lysosomal integral membrane protein, type 2 (LIMP-2) has been identified as the receptor involved in the intracellular sorting and trafficking of the enzyme GCase to lysosomes. Deficiency of LIMP-2 causes Action Myoclonic-Renal Failure (AMRF), which clinically differs from GD. AMRF patients present renal dysfunction and failure, myoclonic epilepsy and ataxia with progressive neurological impairment .engDoenças Lisossomais de SobrecargaDoenças GenéticasProteinas de MembranaLIMP-2AMRFconference object