gauchers disease (sign of mutation)

Gauchers diseaseis due to a defective (mutant) enzyme,
glucocerebrosidase, in the lysosomes. This means that some membrane
structures are not correctly broken down and recycled. In most cases
the result is enlarged macrophages that accumulate in liver, spleen
and bone marrow and cause loss of function.
The disorder is most common in families from Eastern European Jewish
background, but is generally quite rare (estimates of ~10,000 cases
worldwide)
Treatment is either bone marrow transplant or life-long injections of
the enzyme produced from recombinant-DNA technology