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