What is Niemann-Pick Disease?
This inherited disease leads to abnormal lipid metabolism in patients. Individuals with this disease experience major organ malfunction due to the large amounts of lipids in the spleen, liver, lungs, bone marrow, and brain, patients experience major organ malfunction.
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?
There is no treatment for Type A and B. However, Type C patients may be able to slow disease development with oral therapy.
Type A and B (ASMD or Acid Sphingomyelinase Deficiency)
The lack of a specific enzyme called acid sphingomyelinase (ASM) results in aggressive neurological damage in Type A patients. Individuals with Type A experience symptoms early in life and do not typically survive past early childhood.
Type B children may experience milder symptoms and can live into adulthood.
500+Estimated Cases Worlwide
*See details for each type
Oral Treatments for Type C