Niemann-pick disease

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Niemann-Pick disease is type of lysosomal storage disorder. Types A and B are sphingolipidoses and are caused by a buildup of sphingomyelin in the tissues. Type C is a lipidosis that is caused by a build up of cholesterol and other fats (lipids) in the cells. This disease causes many neurologic problems. Niemann-Pick disease occurs when parents pass the defective genes that cause this disease on to their children.

Niemann-Pick disease types A and B occur when the body lacks enzymes needed to break down sphingomyelin.
Niemann-Pick disease type C occurs when the body is not able to break down cholesterol and other lipids.
Symptoms vary by type but may include intellectual disability and neurologic problems.
The diagnosis is based on the results of prenatal screening tests, newborn screening tests (for types A and B), or biopsy of the liver.
Niemann-Pick disease cannot be cured.

There are different types of inherited disorders. In Niemann-Pick disease, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (See also Overview of Hereditary Metabolic Disorders.)
Sphingolipidoses occur when people do not have the enzymes needed to break down (metabolize) sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses besides Niemann-Pick disease types A and B:

Fabry disease
Gaucher disease (most common)
Krabbe disease
Metachromatic leukodystrophy
Sandhoff disease
Tay-Sachs disease