Problem

Niemann-Pick disease

Nature:
A rare disease that usually manifests in the first year of life and produces (generally) a very rapid decline leading to death by two to three years of age.
Background:
Niemann-Pick Disease ("Niemann-Pick") is actually a term for a group of diseases which affect metabolism and which are caused by specific genetic mutations. The three most commonly recognized forms of the disease are Types A, B and C. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). Although Types A and B are both caused by the same enzymatic deficiency, the clinical prognosis for these two groups of patients is very different. Type A Niemann-Pick is a severe neurologic disease which generally leads to death by 2 to 3 years of age. It is believed that the majority of Niemann-Pick cases are Type A. In contrast, patients with Type B generally have little or no neurologic involvement and may survive into late childhood or adulthood.
Incidence:
Niemann-Pick affects all segments of the population with cases reported from North America, South America, Europe, Africa, Asia, and Australia. However a higher incidence of has been found in certain populations: Ashkenazi Jewish population (types A and B); French Canadian population of Nova Scotia (type D); Maghreb region (Tunisia, Morocco, and Algeria) of North Africa (type B); Spanish-American population of southern New Mexico and Colorado (type C).
Broader Problems:
Congenital disorders of lipid metabolism
Related Problems:
Niemann-Pick type C disease
Values:
Disease
Subject(s):
Medicine → Pathology
Problem Type:
G: Very specific problems
Date of last update
25.08.1999 – 00:00 CEST