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Niemann-Pick Disease

Niemann-Pick is an inherited disorder of lipid metabolism characterized by an abnormal accumulation of sphingomyelin in the liver, spleen and lymph nodes. Sphingomyelinase is an enzyme that helps to break down lysosomes, a contributor to the intracellular digestive process. Disease onset varies from birth to adulthood and there are several subtypes, categorized as types A, B and C. The incidence of types A and B is higher in Ashkenazi Jews. Niemann-Pick is differentiated from Gaucher's Disease (another lysosomal disorder) by a macular cherry-red spot.

Type A is most severe and usually diagnosed in infancy with a life expectancy under five years of age. Newborns appear normal, experiencing occasional enlargement of the liver and spleen. Feeding problems, neurologic deterioration, developmental delay and failure to thrive are among the many clinical manifestations that appear by six months of age. Type B is more variable in presentation and progression, with little central nervous system (CNS) involvement. It is first marked by an enlarged spleen, followed by the liver. Type C is as variable as type B, with a high degree of CNS involvement. It generally presents in childhood and is marked by neurologic conditions and decline that include seizure, ataxia (uncoordinated movement) and hypotonia.

Genetic counseling is advised for people who carry this gene. There is no specific treatment for this disease; liver and bone marrow transplant are options.