Reference no: EM132063873

1. What is the cause of elevation in serum acid phosphatase (ACP) activity in Gaucher disease? What is the cause of the pancytopenia associated with Gaucher disease?
2. The metabolic error in I-cell disease (i.e., de?ciency of phosphotransferase activity) gives rise to a secondary phenotype of generalized diminished lysosomal enzyme activity. What other metabolic defects in the mannose 6-phosphate-mediated uptake system could result in such a phenotype, and how would you con?rm the defect?
3. What are some of the ethical questions that would arise if (a) one attempted to implement a screening program to detect carriers of Gaucher disease that employed a biochemical test with a diagnostic speci?city of 0.95? (b) a woman was encouraged to undergo amniocentesis to determine if the fetus was affected?
4. Why might infection precipitate metabolic decompensation in an individual with HMG-CoA lyase de?ciency? What is the biochemical rationale for providing supplemental carnitine to individuals with HMGCoA lyase de?ciency?
5. You are interested in devising a method for prenatal diagnosis of I-cell disease.Using the enzymes listed in Table 17-3, which of these enzyme activities would be most useful in this endeavor and why?