Niemann-Pick disease Type A and B occur when cells in the body lack an enzyme called acid sphingomyelinase (ASM). ASM helps break down (metabolize) a fatty substance called sphingomyelin, which is found in every cell of the body.
If ASM is missing or does not work properly, sphingomyelin builds up inside cells. This leads to cell death and makes it hard for organs to work properly. Type A occurs in all races and ethnicities, but higher rates are seen in the Ashkenazi (Eastern European) Jew population.
Niemann-Pick 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 excessive amounts of other lipids in the brain.
There may be reduced ASM activity in some cells. Type C Niemann-Pick disease has been reported in all ethnic groups but it is most common among Puerto Ricans of Spanish descent.
Type D Niemann-Pick involves a defect that interferes with the movement of cholesterol between brain cells. It is now thought to be a variant of type C. This type of Niemann-Pick disease has only been found in the French Canadian population of Yarmouth County, Nova Scotia.
There may also be an adult-onset form of Niemann-Pick disease. It is sometimes referred to as Type E disease.
What causes Niemann-Pick disease?
{{ORGANIZATION}} and B occur when cells in the body lack an enzyme called acid sphingomyelinase ({{ORGANIZATION}}). ASM helps break down (metabolize) a fatty substance called sphingomyelin, which is found in every cell of the body.
If {{ORGANIZATION}} is missing or does not work properly, sphingomyelin builds up inside cells. This leads to cell death and makes it hard for organs to work properly. Type A occurs in all races and ethnicities, but higher rates are seen in the Ashkenazi (Eastern European) Jew population.
{{NAME}} 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 excessive amounts of other lipids in the brain.
There may be reduced ASM activity in some cells. Type C Niemann-Pick disease has been reported in all ethnic groups but it is most common among {{ORGANIZATION}} of Spanish descent.
{{NAME}} involves a defect that interferes with the movement of cholesterol between brain cells. It is now thought to be a variant of type C. This type of {{ORGANIZATION}} disease has only been found in the French Canadian population of Yarmouth County, {{NAME}}.
There may also be an adult-onset form of {{ORGANIZATION}} disease. It is sometimes referred to as Type E disease.