(1) Depositions Upon Consent of Parties: The deposition of an expert witness upon consent of all the parties to a case shall be governed by Rule 74 rather than this Rule, except that the provisions of paragraph (e) of this Rule shall apply to such a deposition.
Lysosomal storage diseases are caused by the accumulation of macromolecules (proteins, polysaccharides, lipids) in the lysosomes because of a genetic failure to manufacture an enzyme needed for their breakdown.
One particular enzyme, acid alpha-glucosidase, is responsible for breaking down glycogen in the lysosome. Glycogen is a form of sugar that is used for energy storage and is often found in muscle cells. In patients with Pompe disease, this enzyme is either missing, deficient or not functioning properly.n Enzyme Deficiency. The human body produces various enzymes that help break down substances that play a role in the function of cells throughout the body. This breakdown process occurs in small compartments within the cells called lysosomes.