What is Niemann-Pick Disease Type C?
Niemann-Pick disease type C (NPC) is a disorder that prevents the body from carrying lipids inside of cells. NPC is caused by mutations in the NPC1 and NPC2 gene.
Patients who inherit Niemann-Pick disease Type C may experience the first symptoms of the disease at any age.
How to diagnose?
Niemann-Pick disease is currently included in the newborn screening, and it may also be diagnosed through a blood test, biopsy, MRI, or genetic testing.
What is the treatment?
Type C patients may be able to slow disease development with oral therapy.
Niemann-Pick Disease
Type C (NPC)
Niemann-Pick disease type C (NPC) is a lysosomal lipid storage disease that prevents the body from carrying lipids inside of cells. NPC is caused by mutations in the NPC1 and NPC2 gene.
Patients who inherit Niemann-Pick disease Type C may experience the first symptoms of the disease at any age. Symptoms may include jaundice, an enlarged spleen or liver, difficulty with an upward and downward movement, irregular speech, seizures, swallowing problems, etc.
500+Estimated Cases Worlwide
Symptoms:
Jaundice
Irregular breathing
Seizures
*See details for each type
Symptoms:
Oral Treatments for Type C
