Medindia

X

» » Niemann-Pick Disease-Causes-Symptoms-Diagnosis-Treatment-Prognosis-Complications

Niemann-Pick Disease

Rating : 12345
Rate This Article : 1 2 3 4 5
G J 4
A -A +

About

Niemann-Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). Niemann-Pick disease does not have a complete cure.

Niemann-Pick disease refers to a group of inherited metabolic disorders in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. It is included in a family of lysosomal storage diseases. The disease has several forms- Type A, Type B and Type C (earlier classification included types A, B, C, and D)
Advertisement

Niemann-Pick Disease

Niemann-Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). This enzyme is required for breaking down sphingomyelin, which is a product of fat metabolism. The lack of ASM leads to the collection of sphingomyelin or cholesterol in the body. Niemann-Pick disease Type C arises due to a defect in cholesterol and glycolipid transport mechanisms.

According to another classification, Niemann-Pick disease is classified into two types: Niemann-Pick disease, SMPD1-associated (which includes Type A and Type B disease), and Niemann-Pick disease, Type C.


Some forms of the disease can be diagnosed during ante natal screening (techniques like chorionic villus sampling or amniocentesis).After birth, the diagnosis is made by a liver biopsy where liver tissue specimens are obtained and studied under a microscope.

Niemann-Pick disease does not have a complete cure, though treatments that halt the disease progression are being studied. Affected children tend to die of infection or progressive dysfunction of the central nervous system.
Advertisement
More

Post your Comments

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
User Avatar
* Your comment can be maximum of 2500 characters
Notify me when reply is posted I agree to the terms and conditions

Ask an Expert

C
If you have a question about health related issues, you can now post it in our Ask An Expert section on our community website Medwonders.com and get answers from our panel of experts.

You May Also Like

Advertisement
View All
Advertisement