There are many “right” answers to the essay questions. Ensure your answers are p

Question

There are many “right” answers to the essay questions. Ensure your answers are plausible and justifiable for full credit.

2. Pompe disease is an inherited lysosomal storage disorder (LSD) which along with the other 40+ similar genetic disorders in this family affect 1 in 7,700 babies born. You are a pathologist and you would like to investigate and confirm the presence of LSD using histologic methods. What will you do? Include at least two histological techniques in your answer and predicted experimental outcomes. (This is expected to be a short essay)

Explanation / Answer

Pompes disease is type ll glucogen storage disease. It is because of deficiency of acid alpha glucosidase enzyme. It result in accumulation of glycogen in tissues, specially muscle and impairs ability to function.

On histologic investigation

Muscle biopsy shows, vascular myopathy. Type 1 fibers are most often involved. Lysosomal glycogen accumulates are predominant although cytoplasm may be involved. Periodic acid schiff stains is postive for inclusion.

In occular cases there are many positive findings seen which are vascular myopathy involving extraoccular muscle fibers, ciliaey body, iris smooth muscle. Accumulation of glycogen in corneal endothelial and retinal ganglion with lens epitheliumin many cases glycogen accumulated within lysosome of scleral fibroblast.

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