Niemann-Pick Disease: The Genetic condition and Nursing Consideration Mr. Kudari Ananda* Associate Professor, Department of Medical Surgical Nursing, SDM Institute of Nursing Sciences, Sattur, Dharwad, 580009, Karnataka, India *Corresponding Author E-mail: anandakudari@yahoo.co.in
Online published on 18 September, 2017. Abstract Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. There are three most common types of disease namely Niemann-Pick Types A, B and C. Niemann-Pick disease type C is an inherited condition in which the body cannot properly metabolize cholesterol and fats, resulting in an excess of these substances in the body. Approximately 95% of Niemann-Pick type C cases are caused by Genetic mutations in the NPC1 gene, referred to as type C1. The most common symptoms are, hepatomegaly, splenomegaly, prolonged neonatal jaundice, ataxia, clumsiness or frequent falls, dysphagia, gelastic cataplexy, myoclonus and deafness. Miglustat is the only disease-specific oral therapy approved to treat progressive neurological manifestation of NP-C. Top Keywords Niemann-Pick Disease, Lysosome, mutation, gene, cataplexy. Top |