Niemann-Pick disease is classified as an autosomal recessive disorder. It primarily affects the way fats or lipids are metabolized in the body. This means that the normal process of breaking down fats within the body and the manner in which they are being utilized for daily activities is impaired. This disorder severely affects the body because it can cause excessive and unhealthy buildup of lipids or fats in the liver, bone marrow, lungs, spleen and even in the brain. There are three variants of Niemann-Pick Disease which are Types A, B and C. Classification is based on the genetic cause and on the symptoms being presented.

Diagnosis depends on several laboratory procedures which include blood works. Other diagnostic procedures may be performed to assess severity of liver and spleen condition.

The primary symptom associated with Niemann-Pick Disease is abnormal enlargement of the spleen and liver known as hepatosplenomegaly. Type A Niemann-Pick Disease' onset is during infancy. Children with this disorder fail survive past the early stages of childhood. This type is characterized by enlarged spleen and liver, failure of the child to thrive and nervous system deterioration that has a progressive pattern. Type B Niemann-Pick Disease patients also present an enlarged spleen and liver, lung infections and other lung problems, retardation of growth, blood abnormalities with abnormally high lipid and cholesterol levels and low platelet count. These patients usually survive to adulthood. Type C Niemann-Pick Disease occurs during childhood although onset may also be during infancy and adulthood. Symptoms include, serious liver diseases, difficulty in breathing, dystonia, seizures, delayed motor development, lack of vertical eye movements and feeding problems.

Niemann-Pick Disease is inherited. It is classified as an autosomal recessive disorder.

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