Question

In detail explain the pathology for Gaucher Type 1 disease, with an interpreted diagram of the pathway?

Thank You!

Answer 1

gaucher type disease 1 is most common disease i western countries. making up roughly 95 percent of patients there, symptoms include -

liver enlargement

bone problems

fatigue

brain development

low number of red cells

lung disease

arthritis

cause- inborn error of mechanism due to defect in enzyme called glucocerebrosidase, which is needed to breakdown chemical

the gene for gaucher disease is on chromosome 1