NIEMANN-PICK TYPE C: CLINICAL CHARACTERISTICS, DIAGNOSIS, AND MANAGEMENT. A MINI-REVIEW

Abstract

Niemann–Pick type C (NPC), is a lysosomal storage disorder and belongs to a group of diseases characterized
by defective cholesterol trafficking. It is inherited with the autosomal pattern of inheritance. Early NPC
onset is mainly characterized by visceral manifestations, while late NPC onset is characterized by neurological
manifestations. The definite diagnosis of NPC is confirmed by the presence of 2 alleles with a known
disease-causing mutations in the NPC1 or NPC2 genes. Miglustat is a compound that has been approved
for NPC treatment in many countries, while other treatments are also under investigation. Here, we present
a brief synopsis regarding the epidemiology, clinical characteristics, biomarkers, genetics, differential
diagnosis and management of NPC.