- 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?
- The metabolic error in I-cell disease (ie, 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?
- 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 095? (b) a woman was encouraged to undergo amniocentesis to determine if the fetus was affected?
- 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?
- You are interested in devising a method for prenatal diagnosis of I-cell diseaseUsing the enzymes listed in Table 17-3, which of these enzyme activities would be most useful in this endeavor and why?