Understanding Niemann-Pick disease (NPD)
Explore the different forms of Niemann-Pick Disease, from ASMD to NPC, and their distinct features.
There are two forms of NPD
Niemann-Pick disease type C (NP-C) and Acid Sphingomyelinase Deficiency (ASMD) - formerly known as NP-A and NP-B.
Niemann-Pick disease is a group of rare, inherited metabolic disorders where harmful amounts of fatty materials build up in various organs like the liver, spleen, brain, and bone marrow. There are several types of Niemann-Pick disease, each with unique genetic causes and clinical features. NPC is increasingly becoming diagnosed in adults as awareness increases as well as its association with psychiatric conditions.
Niemann-Pick Type C1 and C2
Types C1 and C2 are caused by defects in the NPC1 or NPC2 genes¹, respectively, affecting the transport of cholesterol and other lipids within cells by the NPC1 and NPC2 proteins². These types usually show up in childhood or adolescence and can lead to progressive neurological decline and associations with psychiatric conditions. Due to increased awareness, NPC is increasingly becoming diagnosed in adults.
The NPC genes become faulty when there is a spelling error in the gene’s DNA code. Certain changes to the code can affect the body’s ability to make NPC proteins. This leads to a toxic build-up of cholesterol and other fats in cells causing deterioration and cell death³.
Acid Sphingomyelinase Deficiency Type A, A/B, B
Useful Resources
For Families
Video from NPUK - ‘What is ASMD Niemann-Pick Disease (Type A and Type B)’
National Organisation for Rare Disorders (NORD): Acid Sphingomyelinase Deficiency
Niemann-Pick disease Type C - causes, symptoms, diagnosis, treatment, pathology
For Clinicians / Researchers
General
Last updated
October 2024​
Disclaimer
The information provided on this website is for general informational purposes only and is not intended as medical advice. Always seek the guidance of your doctor or other qualified health professional with any questions you may have regarding your health or a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
Sources