Niemann-Pick B

Niemann-Pick B disease is an autosomal recessive genetic disorder that occurs in a higher incidence among the Ashkenazi Jewish population. The term “Niemann-Pick” refers to a group of diseases which affect metabolism and are caused by specific genetic mutations. The most commonly recognized forms of the disease are Types A & B.

Niemann-Pick A & B is caused by the deficiency of a specific enzyme “acid sphingomyelinase” or ASM. This enzyme is ordinarily found in the compartments within cells called lysosomes. These lysosomes are required to metabolize a special lipid, called sphingomyelin. If the enzyme ASM is absent or not functioning properly it will not break down sphingomyelin and will accumulate within the cell. This accumulation will eventually cause cell death and lead to the malfunction of major organ systems. Patients who are diagnosed with Type B may survive into late childhood or adulthood but the enlargement of organs (liver and spleen) and respiratory problems associated with this disease can cause cardiovascular stress and can lead to heart disease later in life.

Genzyme Canada is committed to provide support to patients and families of sufferers affected by this debilitating disease through education of healthcare providers and by developing treatments through new research to improve the overall quality of life those affected.

For more information on Nieman Pick B and other related Lysosomal Storage Diseases please contact Genzyme Canada at (905) 625-0011 or toll-free at 1-877-220-8918.

Privacy Policy - Canada USA | Terms and Conditions of Use | | © 2003-2012 Genzyme, a Sanofi company. All rights reserved.