Medlab Lipid Storage Diseases
Which disease has cells that look like crinkled tissue paper on bone marrow biopsy?
Gaucher's
Abnormal facial features and liver enlargement are seen in:
Gaucher's Niemann-Pick
What are the three most common lipid storage diseases?
Gaucher's Tay-Sachs Niemann-Pick
In Gaucher's Disease, the representative cell is ___ shaped.
Rod
True/False Infant onset has a more sever clinical presentation and a shorter life span.
True
Lipid storage disease result from a ______ gene mutation.
single
The lymphocytes in each of these disorders shows:
vacuolization
Name 2 forms of disease management for lipid storage diseases.
Enzyme Replacement Therapy Bone Marrow Transplant
The representative cell of Niemann-Pick disease has what?
evenly sized lipid accumulations in the cytoplasm
In Tay-Sachs Disease, there is no identifiable bone marrow cell, but most individuals have a deficiency in:
hexosaminidase A