Chapter·BiochemistryLysosomal storage diseases

Treatment options (ERT, substrate reduction, chaperones)Downloads

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1

You are taking care of a patient with renal failure secondary to anti-fungal therapy. The patient is a 66-year-old male being treated for cryptococcal meningitis. This drug has a variety of known side effects including acute febrile reactions to infusions, anemia, hypokalemia and hypomagnesemia. What is the mechanism of action of this drug?

AInhibition of squalene epoxidase

BBinding of the 50S subunit

CPore formation secondary to ergosterol binding

DDisruption of microtubule formation

EInhibition of 1,3-beta-glucan synthase

2

A drug discovery team is conducting research to observe the characteristics of a novel drug under different experimental conditions. The drug is converted into the inactive metabolites by an action of an enzyme E. After multiple experiments, the team concludes that as compared to physiologic pH, the affinity of the enzyme E for the drug decreases markedly in acidic pH. Co-administration of an antioxidant A increases the value of Michaelis-Menten constant (Km) for the enzyme reaction, while co-administration of a drug B decreases the value of Km. Assume the metabolism of the novel drug follows Michaelis-Menten kinetics at the therapeutic dose, and that the effects of different factors on the metabolism of the drug are first-order linear. For which of the following conditions will the metabolism of the drug be the slowest?

AAcidic pH, co-administration of antioxidant A and of drug B

BAcidic pH, co-administration of antioxidant A, no administration of drug B

CPhysiologic pH, co-administration of antioxidant A, no administration of drug B

DAcidic pH, co-administration of drug B, no administration of antioxidant A

EAcidic pH, without administration of antioxidant A or drug B

3

A steel welder presents to his family physician with a one-week history of intense abdominal cramping with nausea, vomiting, constipation, headaches, myalgias, and arthralgias. He claims that the symptoms started about two months after he began work on replacing the pipes in an early 20th century house. Blood was taken and he was found to have a microcytic, hypochromic anemia with basophilic stippling. Which of the following is the best treatment for his symptoms?

APrussian blue

BDeferasirox

CEDTA

DN-acetylcysteine

EDeferoxamine

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