TEST BANK For Tietz Fundamentals of Clinical Chemistry and
Molecular Diagnostics, 8th Edition by Nader Rifai,
51) Of the following, what is the inborn error of metabolism for glycogen storage
disease?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Disorder of carbohydrate metabolism - ANSWER:D
52) Of the following, what is the inborn error of metabolism for alkptonuria?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Disorder of carbohydrate metabolism - ANSWER:B
53) Of the following, what is the inborn error of metabolism for propionic acidemia?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Disorder of carbohydrate metabolism - ANSWER:C
54) A newborn infant is observed to have symptoms of poor feeding, vomiting,
lethargy, and irritability. Screening tests reveal elevated ornithine and ammonia in
the infant's blood. What type of disorder do these symptoms indicate?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Urea cycle disorder - ANSWER:D
55) Dietary restriction of foods containing the branched-chain amino acids is one of
the treatments required for individuals with:
a. Phenylketonuria
b. Glutaric acidemia type 1
c. Maple syrup urine disease
d. Alkaptonuria - ANSWER:C
56) You have been asked to direct a pharmacogenetics testing laboratory in a
hospital with many transplant patients who receive mercaptopurine derivatives to
control transplant rejection. Which of the following enzyme phenotyping or
genotyping services would be the highest priority to establish initially?
a. N-acetyltransferase genotyping
b. Thiopurine methyltransferase (TPMT) genotyping
c. CYP1A1 genotyping
d. CYP2D6 phenotyping - ANSWER:B
, 57) You are appointed director of the county hospital cardiac laboratory and have
been asked to identify individuals that might not respond well to platelet-inhibiting,
clot-destroying drugs. Which of the following polymorphic genes would you be most
interested in having genotyped to discover these individuals?
a. TPMT
b. UGT1A1
c. CYP2C19
d. CYP2D6 - ANSWER:C
58) Bilirubin is an important endogenous substrate of which one of the following
enzymes?
a. N-acetyltransferase
b. Thiopurine methyltransferase
c. UGT1A1
d. CYP3A4 - ANSWER:C
59) Regarding pharmacogenetics, a phase 1 enzyme metabolizes drugs by:
a. Conjugating an acetyl group to a drug compound.
b. Transferring a methyl group to a drug substrate.
c. Conjugating an amine group to a drug substrate.
d. Oxidizing a drug substrate. - ANSWER:D
60) A combination of alleles that are located closely together on the same
chromosome and are inherited together is the definition of:
a. Haplotype
b. Pseudogene
c. Allelic diversity
d. Genotype - ANSWER:A
61) Tamoxifen is a drug that is used to prevent or treat some forms of breast cancer.
Before it can have a physiological effect, tamoxifen must be metabolized to an active
metabolite called endoxifen. Tamoxifen is therefore considered to be a:
a. Metabolizer
b. Prodrug
c. Transferase
d. Cytochrome - ANSWER:B
62) A drug substrate for the metabolizing enzyme UGT1A1 is:
a. Tamoxifen.
b. Codeine.
c. Diazepam.
d. Irinotecan. - ANSWER:D
63) A drug substrate for the metabolizing enzyme CYP2D6 is:
a. Tamoxifen.
b. Codeine.
Molecular Diagnostics, 8th Edition by Nader Rifai,
51) Of the following, what is the inborn error of metabolism for glycogen storage
disease?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Disorder of carbohydrate metabolism - ANSWER:D
52) Of the following, what is the inborn error of metabolism for alkptonuria?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Disorder of carbohydrate metabolism - ANSWER:B
53) Of the following, what is the inborn error of metabolism for propionic acidemia?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Disorder of carbohydrate metabolism - ANSWER:C
54) A newborn infant is observed to have symptoms of poor feeding, vomiting,
lethargy, and irritability. Screening tests reveal elevated ornithine and ammonia in
the infant's blood. What type of disorder do these symptoms indicate?
a. Disorder of fatty acid oxidation
b. Aminoacidopathy
c. Organic acidemia
d. Urea cycle disorder - ANSWER:D
55) Dietary restriction of foods containing the branched-chain amino acids is one of
the treatments required for individuals with:
a. Phenylketonuria
b. Glutaric acidemia type 1
c. Maple syrup urine disease
d. Alkaptonuria - ANSWER:C
56) You have been asked to direct a pharmacogenetics testing laboratory in a
hospital with many transplant patients who receive mercaptopurine derivatives to
control transplant rejection. Which of the following enzyme phenotyping or
genotyping services would be the highest priority to establish initially?
a. N-acetyltransferase genotyping
b. Thiopurine methyltransferase (TPMT) genotyping
c. CYP1A1 genotyping
d. CYP2D6 phenotyping - ANSWER:B
, 57) You are appointed director of the county hospital cardiac laboratory and have
been asked to identify individuals that might not respond well to platelet-inhibiting,
clot-destroying drugs. Which of the following polymorphic genes would you be most
interested in having genotyped to discover these individuals?
a. TPMT
b. UGT1A1
c. CYP2C19
d. CYP2D6 - ANSWER:C
58) Bilirubin is an important endogenous substrate of which one of the following
enzymes?
a. N-acetyltransferase
b. Thiopurine methyltransferase
c. UGT1A1
d. CYP3A4 - ANSWER:C
59) Regarding pharmacogenetics, a phase 1 enzyme metabolizes drugs by:
a. Conjugating an acetyl group to a drug compound.
b. Transferring a methyl group to a drug substrate.
c. Conjugating an amine group to a drug substrate.
d. Oxidizing a drug substrate. - ANSWER:D
60) A combination of alleles that are located closely together on the same
chromosome and are inherited together is the definition of:
a. Haplotype
b. Pseudogene
c. Allelic diversity
d. Genotype - ANSWER:A
61) Tamoxifen is a drug that is used to prevent or treat some forms of breast cancer.
Before it can have a physiological effect, tamoxifen must be metabolized to an active
metabolite called endoxifen. Tamoxifen is therefore considered to be a:
a. Metabolizer
b. Prodrug
c. Transferase
d. Cytochrome - ANSWER:B
62) A drug substrate for the metabolizing enzyme UGT1A1 is:
a. Tamoxifen.
b. Codeine.
c. Diazepam.
d. Irinotecan. - ANSWER:D
63) A drug substrate for the metabolizing enzyme CYP2D6 is:
a. Tamoxifen.
b. Codeine.
