Niemann-Pick disease

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Niemann-Pick disease (pronunciation: nee-mun pick) is a term that encompasses a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The disease is named after Albert Niemann and Ludwig Pick, the two physicians who first described the condition in the early 20th century.

Etymology

The disease is named after Albert Niemann, a German pediatrician who first described the disease in 1914, and Ludwig Pick, a German pathologist who further developed the concept of the disease in the 1930s.

Types

Niemann-Pick disease is divided into four main types: Type A, Type B, Type C1, and Type C2.

Symptoms

Symptoms of Niemann-Pick disease vary with each type but may include neurological problems, hepatosplenomegaly, dysphagia, and dementia.

Diagnosis

Diagnosis of Niemann-Pick disease involves clinical evaluation, detailed patient history, identification of characteristic physical findings, and a variety of specialized tests.

Treatment

There is currently no cure for Niemann-Pick disease. Treatment is symptomatic and supportive.

See also

References


External links

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