Questions and Answers
The statins inhibit which of the following enzymes?
HMG CoA Reductase.
Which one of the following is not allowed to pass through the renal glomerular filtration membrane?
Albumin.
The laboratory assay for the estimation of total cholesterol depends upon which one of the following?
Oxidation of cholesterol and the generation of hydrogen peroxide.
The laboratory determined the serum concentration of creatinine in a patient as 1.3 mg/dL. Convert mg/dL to µmol/L given the molecular Weight of creatinine is 113 Da.
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How is medium chain acyl-CoA dehydrogenase (MCAD) deficiency diagnosed by Newborn screening?
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Which of the following doesn't contribute to the disease pathophysiology of phenylketonuria (PKU)?
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Which 2 factors can cause phenylketonuria?
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Which of the following is false about the treatment and life styles of patients with medium chain acyl-CoA dehydrogenase deficiency (MCADD)?
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Study Notes
Enzyme Inhibition
- Statins inhibit HMG-CoA reductase enzyme.
Renal Glomerular Filtration
- The following cannot pass through the renal glomerular filtration membrane: proteins.
Cholesterol Estimation
- The laboratory assay for estimating total cholesterol depends on cholesterol oxidase.
Creatinine Conversion
- To convert creatinine concentration from mg/dL to µmol/L, use the following formula: µmol/L = (mg/dL x 1000) / 113.
MCAD Deficiency Diagnosis
- Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is diagnosed by Newborn screening using tandem mass spectrometry (MS/MS).
Phenylketonuria (PKU)
- The following does not contribute to the disease pathophysiology of PKU: ketone bodies.
- Two factors that can cause PKU are: phenylalanine hydroxylase deficiency and lack of tetrahydrobiopterin (BH4) cofactor.
MCADD Treatment and Lifestyle
- The following is false about the treatment and lifestyle of patients with MCADD: carnitine supplementation is always required; in fact, it is only prescribed if there is a secondary deficiency or impaired carnitine biosynthesis.
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