Nieman-Pick Disease refers to a group of inherited metabolic disorders known as lipid storage disorders. Patients diagnosed with these disorders lack a critical enzyme necessary to metabolize fatty substances in the body called lipids. As a result, harmful quantities of lipids accumulate in the spleen, liver, lungs, bone marrow and brain.
Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech and an enlarged liver and spleen. The most common type, Type A, occurs in infants. Children with this type rarely live beyond 18 months. Type B involves an enlarged liver and spleen, which usually occurs in the pre-teen years, but the brain is not affected. Types C and D may appear early in life or develop later in the teens. These individuals may have only moderate enlargement of the spleen and liver, but brain damage may be extensive and cause an inability to look up and down, difficulty in walking and swallowing and progressive loss of vision and hearing. Type D usually occurs in people with an ancestral background in Nova Scotia.
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research on Niemann-Pick and a number of these other rare childhood diseases in laboratories at the NIH. They also support additional research through grants to major medical institutions across the country.