Abstract

VILLAMANDOS GARCIA, Diana  and  SANTOS-LOZANO, Alejandro. Niemann-Pick disease: a global approach. Ene. [online]. 2014, vol.8, n.2. ISSN 1988-348X.  https://dx.doi.org/10.4321/S1988-348X2014000200003.

Niemann-Pick disease (NP) is a lysosomal disease that is transmitted by autosomal recessive inheritance. NP is characterized by the accumulation of sphingomyelin, cholesterol and other lipids in different organs causing cellular and visceral disorders. The disease can be subdivided into four types (A, B, C and D) and the most common symptoms are visceromegaly and neuronal involvement. NP treatment is mainly palliative and its principal aim is to delay the symptoms and to delay the death. However, the investigation of NP continues trying to get an accurate diagnosis at an early age and a treatment that could reduce the progression of the disease.

Keywords : Rare Diseases; Lysosomal Storage Diseases; Lysosomal Storage Diseases; Nevous System.