Niemann-Pick disease
The definitions used in this glossary of terminology either have been provided by the authors of the articles, or have been extracted wholly or in part, or paraphrased from the following sources: The American Medical Association Encyclopedia of Medicine, Charles B. Clayman, MD, Medical Editor, Random House, New York, 1989; Biotechnology from A to Z, 2d Edition, William Bains, Oxford University Press, New York, New York, 2002; A Dictionary of Genetics, 6th Edition, Robert C. King and William D. Stansfield, Oxford University Press, New York, New York, 2002; Dorland's Illustrated Medical Dictionary, 29th and 30th Editions, W. B. Saunders Company, Philadelphia, 2000, 2003; Genes VII, Benjamin Lewin, Oxford University Press, New York, New York, 2000; The Gale Encyclopedia of Genetic Disorders, Volumes I and II, Stacey L. Blachford, Ed., Thomson Learning, New York, New York, 2002; The Merriam-Webster Dictionary, Merriam-Webster, Inc., Springfield, Massachusetts, 1997; Molecular Biology of the Cell, 3rd Edition, Bruce Alberts, et al., Garland Publishing, 1994; The Random House Dictionary of the English Language, Unabridged Edition, 1966; Webster's Ninth New Collegiate Dictionary, 1991.
DEFINITION:
- Niemann-Pick disease
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A lysosomal storage disease due to a deficiency of sphingomyelin phosphodiesterase with sphingomyelin accumulation in the reticuloendothelial system. There are five types distinguished by age of onset and by the amount of CNS involvement and of sphingomyelin phosphodiesterase activity. "Type A" (acute neuronopathic) is the classic type, accounting for 85 percent of the patients: onset is in early infancy; CNS damage is severe; death occurs by 4 years. "Type B" (chronic nonneuronopathic) has onset in early infancy but does not affect the CNS or intelligence; normal life-span is possible. "Type C" (chronic neuronopathic) has variable ages of onset (at 2 years or older) and of death (from age 5 to adulthood) and variable CNS involvement. "Type D" (the Nova Scotia variant) resembles type C; "Type E" (the adult, nonneuronopathic form) may be a late-onset variant of type C. Called also "Niemann's disease," "sphingomyelin lipidosis," and "sphingomyelinase deficiency."
Used in 3 Term definitions
Used in 3 Term definitions