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What is Niemann-Pick disease (NPD)?

Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.

There are three common forms of the disease: Type A, Type B, Type C. Each type involves different organs. It may or may not involve the nervous system and breathing. Each one can cause different symptoms and may occur at different times throughout life.

What are the causes?

NPD types A and B occur when cells in the body do not have an enzyme called acid sphingomyelinase (ASM). This substance helps break down (metabolize) a fatty substance called sphingomyelin, which is found in every cell in the body.

If ASM is missing or does not work properly, sphingomyelin builds up inside cells. This kills your cells and makes it hard for organs to work properly.

Type A occurs in all races and ethnicities. It is more common in the Ashkenazi (Eastern European) Jewish population.

Type C occurs when the body cannot properly break down cholesterol and other fats (lipids). This leads to too much cholesterol in the liver and spleen and too much of other lipids in the brain. Type C is most common among Puerto Ricans of Spanish descent.

Type C1 is a variant of type C. It involves a defect that interferes with how cholesterol moves between brain cells. This type has only been seen in French Canadian people in Yarmouth County, Nova Scotia.

What are the symptoms?

Abdominal enlargement; Enlarged spleen or liver; Jaundice following birth; Unusual shortness of breath; Repeated lung infections; Cherry red spot inside the eye; Vertical eye movement difficulties; Progressive loss of early motor skills; Feeding and swallowing difficulties; Learning problems; Sudden loss of muscle tone; Slurred speech; Seizures; Hypersensitivity to touch.

These symptoms may be an indication of Niemann-Pick disease. Chances are you haven’t heard much about Niemann-Pick disease. It’s a rare disease, but maybe not as rare as we think as it is difficult to diagnose. These pages provide information about NPD, it’s diagnosis and treatment, and the work that NNPDF is conducting to fund research and support families affected by Niemann-Pick disease.

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