Confused and have questions? We’ve got answers. With Chegg Study, you can get step-by-step solutions to your questions from an expert in the field. If you rather get 1:1 study help, try 30 minutes of free online tutoring with Chegg Tutors.

Niemann-pick disease

From Biology-Online Dictionary | Biology-Online Dictionary
Jump to: navigation, search

Niemann-Pick disease

(Science: disease) A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system.

The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi jews than other groups.

clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised.