Editorial on Niemann-Pick Disease

Lisa Andrew^*
*Correspondence: Lisa Andrew, Department of Molecular Biology, University of Helsinki, Finland, Email:

Editorial

Niemann-Pick disease is a rare, inherited condition that impairs the body's ability to metabolise fat (cholesterol and lipids) within cells. These cells malfunction and eventually die. The brain, nerves, liver, spleen, bone marrow, and, in severe cases, the lungs can all be affected by Niemann-Pick disease. This condition causes symptoms related to the progressive loss of function of nerves, the brain, and other organs. Niemann-Pick disease can strike at any age, but it primarily affects children. The disease has no known cure and can be fatal.

Niemann-Pick disease can strike at any age, but it primarily affects children. The disease has no known cure and can be fatal. Niemann-Pick disease is caused by mutations in specific genes involved in fat metabolism (cholesterol and lipids). The mutations in the Niemann-Pick gene are passed down from parents to children in a pattern known as autosomal recessive inheritance. This means that for the child to be affected, both the mother and father must pass on the defective form of the gene [1-3].

Niemann-Pick disease is incurable, and there is no cure. It can happen at any age.Types A and B are caused by a sphingomyelinase enzyme that is either missing or malfunctioning. This impairs the body's ability to metabolise fat (cholesterol and lipids), resulting in fat accumulation in cells. This results in cell dysfunction and, eventually, cell death. Type A is mostly seen in infants, who have severe, progressive brain disease. Because there is no cure, most children do not survive their first few years. Type B usually manifests later in childhood and is unrelated to primary brain disease. The majority of people who are affected by type B live to adulthood. Niemann-Pick type C [4,5] is an inherited disease that is extremely rare. This type of genetic mutation causes cholesterol and other fats to accumulate in the liver, spleen, or lungs. Eventually, the brain is affected as well.

Niemann-Pick disease is a rare, inherited condition that impairs the body's ability to metabolise fat (cholesterol and lipids) within cells. These cells malfunction and eventually die. The brain, nerves, liver, spleen, bone marrow, and, in severe cases, the lungs can all be affected by Niemann-Pick disease. This condition causes symptoms related to the progressive loss of function of nerves, the brain, and other organs. Niemann-Pick disease can strike at any age, but it primarily affects children. The disease has no known cure and can be fatal. Treatment focuses on assisting patients in coping with their symptoms.

Clumsiness and difficulty walking are signs and symptoms of Niemann- Pick disease. Excessive muscle contractions (dystonia) or eye movements are also signs and symptoms of Niemann-Pick disease. Sleep disruptions, swallowing and eating difficulties, Persistent pneumonia Types A, B, and C are the three main types of Niemann-Pick. Your signs and symptoms will vary depending on the type and severity of your condition. Some type of infants will exhibit signs and symptoms within the first few months of life. Type B patients may not exhibit symptoms for years and have a better chance of surviving to adulthood. People with type C may not exhibit any symptoms until they reach adulthood. Niemann-Pick disease is caused by mutations in specific genes involved in fat metabolism (cholesterol and lipids).

The mutations in the Niemann-Pick gene are passed down from parents to children in a pattern known as autosomal recessive inheritance. This means that for the child to be affected, both the mother and father must pass on the defective form of the gene. Niemann-Pick disease is incurable, and there is no cure. It can happen at any age.

Conflict of Interest

None.

References

1. Sedel F., J.M. Saudubray, E. Roze, and Y. Agid, et al. "Movement disorders and inborn errors of metabolism in adults: a diagnostic approach." J Inherit Metab Dis 31 (2008): 308-318.

Google Scholar, Crossref

2. Josephs K.A., M.W.Van Gerpen and J.A.Van Gerpen. "Adult onset Niemann-Pick disease type C presenting with psychosis." J Neurol Neurosurg Psychiatry 74 (2003): 528-529.

Google Scholar, Crossref

3. Abel, Larry. A., M. Walterfang and M. Fietz, et al. "Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits." Neurol 72 (2009): 1083-1086.

Google Scholar, Crossref

4. Storey, Elsdon, Kate Tuck and Robert Hester, et al. "Inter‐rater reliability of the international cooperative Ataxia Rating Scale (ICARS)." Mov Disord 19 (2004): 190-192.

Google Scholar, Crossref

5. Mathuranath P.S., P.J. Nestor, G.E. Berrios and Wojtek Rakowicz, et al. "A brief cognitive test battery to differentiate Alzheimer's disease and frontotemporal dementia." Neurol 55 (2000): 1613-1620.

Google Scholar, Crossref