What is the pathophysiology of Niemann-Pick disease?

Niemann-Pick type C disease (NPC) is a sphingolipid storage disorder that results from inherited deficiencies of intracellular lipid trafficking proteins, and is characterized by an accumulation of cholesterol and glycosphingolipids in late endosomes and lysosomes.

What deficiency causes Niemann-Pick disease?

Niemann-Pick disease (NPD) types A and B result from genetic mutations in the SMPD1 gene, producing in a deficiency of acid sphingomyelinase (ASM) and lysosomal accumulation of sphingomyelin. The SMPD1 gene spans about 5 kb of chromosome 11 (11p15.

How does Niemann-Pick disease affect the body?

Niemann-Pick is a rare, inherited disease that affects the body’s ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.

Is there a cure for Niemann-Pick disease?

There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A.

What enzyme is involved in Niemann-Pick disease?

Niemann-Pick disease types A and B is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes , which are compartments within cells that break down and recycle different types of molecules.

How do you test for Niemann-Pick disease?

Experts take a small sample of skin to test for Niemann-Pick to assess how the cells move and store cholesterol….Other tests also may be done, such as:

1. Magnetic resonance imaging (MRI). An MRI of the brain may show loss of brain cells.
2. Eye exam.
3. Genetic testing.
4. Prenatal testing.

What is the life expectancy of someone with Pick’s disease?

Treatment. There’s no cure for Pick’s disease, and medications can’t slow it down. It can progress slowly, but usually it steadily gets worse over time. Some people live as long as 10 years with the disease.

How long do people live with Niemann-Pick?

Niemann-Pick Type A is the most severe form of the disease, with an average life expectancy of 18 months. Type B represents a milder form of disease, and some patients live into late to mid teens, with a few surviving into adulthood.

What does someone with Noonan syndrome look like?

People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum ), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward.

What can be done for a person with Noonan syndrome?

How Is Noonan Syndrome Treated?

• Medicines and surgery can help heart problems.
• Medicines or blood transfusions can treat bleeding.
• Growth hormone can help speed up slow growth.
• Surgery can correct undescended testicles.
• Education programs can help a child who has trouble learning.

What is Pick’s disease dementia?

Pick’s disease is a kind of dementia similar to Alzheimer’s but far less common. It affects parts of the brain that control emotions, behavior, personality, and language. It’s also a type of disorder known as frontotemporal dementia (FTD) or frontotemporal lobar degeneration (FTLD).

What do you need to know about Niemann Pick disease?

Summary Summary. Listen. Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.

How does Niemann Pick Type C affect the brain?

Type C. Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs. The brain is eventually affected too.

Can a person with Niemann Pick Type B survive?

Most people affected with type B survive into adulthood. Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs. The brain is eventually affected too. Patterson MC. Overview of Niemann-Pick disease. http://www.uptodate.com/home.

How is Niemann Pick Type C different from ASMD?

Niemann-Pick Type C (NPC) is very different than Type A or B (ASMD). NPC Patients are not able to metabolize cholesterol and other lipids properly within the cell. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain.