Workbook of Biochem

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First Aid Express 2016 workbook: BIOCHEMISTRY page 1

Biochemistry
How to Use the Workbook with the Videos
Using this table as a guide, read the Facts in First Aid for the USMLE Step 1 2016,
watch the corresponding First Aid Express 2016 videos, and then answer the workbook
questions.

Facts in First Aid for Corresponding First Aid Workbook


the USMLE Step 1 2016 Express 2016 videos questions
48.1–57.3 Molecular (4 videos) 1–25
58.1–64.3 Cellular (3 videos) 26–46
64.2–68.1 Laboratory Techniques (2 videos) 47–52
68.2–76.1 Genetics (5 videos) 53–73
76.2–83.1 Nutrition (2 videos) 74–76
83.2–105.2 Metabolism (13 videos) 77–94

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page 2 First Aid Express 2016 workbook: BIOCHEMISTRY

Questions

MOLECULAR
1. Which histone is not part of the nucleosome core? (p 48) ________________________________

2. What is DNA called when it is condensed and transcriptionally inactive? (p 48) _______________

3. What is the name for transcriptionally active DNA? (p 48)_________________________________

4. What effect does greater G-C content have on the melting temperature of DNA? (p 49)
______________________________________________________________________________

5. Which enzyme is inhibited by hydroxyurea? (p 49) _____________________________________

6. 5-Fluorouracil inhibits _______________, whereas both methotrexate and trimethoprim inhibit


_______________. (p 49)

7. A 12-year-old boy with moderate intellectual disability visits his physician because of painful
swollen joints. During the examination, the boy makes several uncontrolled spastic muscle
movements. His medical history includes muscular hypotonia diagnosed when he was 5 months
old. When he was 3 years old he was referred to a pediatric dentist for severe repetitive biting of
his lip and tongue. What is the most likely diagnosis? (p 50) ______________________________

______________________________________________________________________________

______________________________________________________________________________

______________________________________________________________________________

8. What enzyme “proofreads” DNA synthesis with its exonuclease activity in prokaryotic DNA replica-
tion? In which direction can it remove nucleotides? (p 51) ________________________________

9. What enzyme degrades the RNA primer and replaces it with DNA during prokaryotic DNA
replication? (p 51) _______________________________________________________________

10. Which category of drugs inhibits DNA gyrase? (p 51) ____________________________________

11. Silent mutations often result from changes in which position of a codon? (p 52) _______________

12. What kind of mutation denotes a DNA change that results in the misreading of all nucleotides
downstream from it? (p 52) ________________________________________________________

13. What specific DNA repair mechanism is defective in xeroderma pigmentosum? (p 53) _________
______________________________________________________________________________

14. In single-stranded DNA repair, how are nucleotide-excision and base-excision repair different? (p
53) ___________________________________________________________________________

15. Hereditary nonpolyposis colorectal cancer results from the loss of which DNA repair mechanism?
(p 53) _________________________________________________________________________

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First Aid Express 2016 workbook: BIOCHEMISTRY page 3

16. What commonly results from a mutation within a promoter? (p 54) _________________________

17. What type of RNA is the largest? The smallest? The most numerous? (p 54) ________________
______________________________________________________________________________

18. What poisonous protein that inhibits RNA polymerase II is found in death cap mushrooms? (p 54)
______________________________________________________________________________

19. In eukaryotes, what enzyme makes mRNA? (p 54) _____________________________________

20. In eukaryotes, what enzyme makes tRNA? (p 54) ______________________________________

21. Patients with which disease make antibodies to spliceosomal small nuclear ribonucleoproteins? (p
55)_________________________________________________________________________

22. β-Thalassemia can be caused by a mutation causing splicing defects in a process that combines
different exons within a single gene. What mechanism allows the same gene to encode for various
different proteins? (p 55) __________________________________________________________

23. Which molecule in the process of gene expression into proteins is inhibited by microRNAs (DNA,
RNA polymerase, mRNA, ribosome, or final protein)? (p 55)______________________________

24. Explain the three steps of the elongation phase of protein synthesis. (p 57) __________________
______________________________________________________________________________
______________________________________________________________________________

25. What is the category of proteins like Hsp60 which help other proteins fold properly after translation?
(p 57) _________________________________________________________________________

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page 4 First Aid Express 2016 workbook: BIOCHEMISTRY

CELLULAR
26. Fill in the boxes on the following diagram, noting the phases of the mitotic cell cycle. (p 58)

27. Which transition in the cell cycle is prevented by Rb and p53 tumor suppressors? (p 58) ________
______________________________________________________________________________

28. Match the cell type with its description. (p 58)


_____ A. Cells remain in G0 and regenerate from stem cells 1. Labile cells
_____ B. Enter G1 from G0 when stimulated 2. Permanent cells
_____ C. Never go to G0 and divide rapidly with a short G1 3. Stable (quiescent) cells

29. Name two cells that are rich in rough endoplasmic reticulum. (p 58) ________________________

30. Name two cells that are rich in smooth endoplasmic reticulum. (p 58) _______________________

31. A child presents with coarse facial features, clouded corneas, restricted joint movement, and high
plasma levels of lysosomal enzymes. What is the most likely diagnosis? (p 59) ________________

32. Which molecular motor protein is used for anterograde transport along microtubules? (p 60) _____

______________________________________________________________________________

33. Which antifungal agent targets microtubules? (p 60) ____________________________________

34. Which antihelminthic drugs target microtubules? (p 60) __________________________________

35. A 22-year-old woman presents with a history of recurrent pneumonia. X-ray of the chest shows
dextrocardia. What is the most likely diagnosis? (p 60) __________________________________

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First Aid Express 2016 workbook: BIOCHEMISTRY page 5

36. Cilia, flagella, mitotic spindles, neurons, and centrioles are composed of which cytoskeletal
element? (p 60) _________________________________________________________________

37. Vimentin, desmin, cytokeratin, glial fibrillary acid proteins, and neurofilaments are examples of
which type of cytoskeletal element? (p 60) ____________________________________________

38. What effect does digoxin’s inhibition of Na+-K+ ATPase have on cardiac contractility? (p 61) _____
______________________________________________________________________________

39. What type of collagen is found in each structure? (p 61)


_____ A. Basement membrane or basal lamina 1. Type I collagen
_____ B. Bone, skin, tendon, dentin, fascia, cornea, 2. Type II collagen
late wound repair 3. Type III collagen
_____ C. Cartilage, vitreous body, nucleus pulposus 4. Type IV collagen
_____ D. Skin, blood vessels, uterus, fetal tissue, granulation
tissue
40. British sailors in the 17th century were often unable to hydroxylate proline and lysine residues for
collagen synthesis. What disease did they have, and why did the treatment work? (p 62)
______________________________________________________________________________

41. What disease leads to an inability to form procollagen from pro α chains? (p 62) ______________

______________________________________________________________________________

42. A baby is born with multiple fractures and hearing loss. What finding would most likely be seen
during the ophthalmologic examination? (p 62) ________________________________________

43. A patient presents with hyperextensible skin, easy bruising, and hypermobile joints. What is the
most likely diagnosis? (p 63) _______________________________________________________

44. Which enzyme involved in collagen synthesis will have decreased activity in a patient who has a
mutation that impairs copper absorption and transport? (p 63) _____________________________

45. Marfan syndrome is caused by a defect in what protein? (p 64) ____________________________

46. Which lung disorder can result from excess elastase activity? (p 64) ________________________

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page 6 First Aid Express 2016 workbook: BIOCHEMISTRY

LABORATORY TECHNIQUES
47. Describe each of the following blot techniques: Southern, Northern, and Western (p 65)
Southern blot: ___________________________________________________________________

_______________________________________________________________________________

Northern blot: ___________________________________________________________________

_______________________________________________________________________________

Western blot: ___________________________________________________________________

_______________________________________________________________________________

48. Which assay can quantify the fraction of cells in a liquid sample that express a specific set
of surface markers? (p 66) _________________________________________________________

49. Which assay can measure the expression level of many genes simultaneously? (p 66) __________
_______________________________________________________________________________

50. What is the advantage of a Western blot over an ELISA? (p 67) ____________________________

_______________________________________________________________________________

51. What is the advantage of fluorescence in situ hybridization over karyotyping? (p 67) ___________
______________________________________________________________________________

52. What is the most direct lab technique for detecting autosomal trisomies? (p 67) _______________
______________________________________________________________________________

GENETICS
53. Explain loss of heterozygosity. (p 68) ________________________________________________
______________________________________________________________________________

54. A genetic disease that shows _______________________________ may have mutations at one of
several different loci that produce the same phenotype. (p 68)

55. In terms of p and q, what is the heterozygote prevalence in a population that is in Hardy-Weinberg
equilibrium? (p 69) _______________________________________________________________

56. How is Prader-Willi syndrome inherited? What are the symptoms? (p 69) ____________________
______________________________________________________________________________

57. How is Angelman syndrome inherited? What are the symptoms? (p 69) _____________________
______________________________________________________________________________

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First Aid Express 2016 workbook: BIOCHEMISTRY page 7

58. Which mode of inheritance is represented by each of the following pedigrees? (p 70)

_____ A. _____ B. _____ C.

_____ D. _____ E.

1. Autosomal dominant
2. Autosomal recessive
3. Mitochondrial inheritance
4. X-linked dominant
5. X-linked recessive

59. What percentage of sons of a carrier mother is expected to inherit an X-linked recessive disease?
(p 70) _________________________________________________________________________

60. True or False: A mother with an X-linked dominant disease may pass the disease to her sons but
not to her daughters. (p 70) ________________________________________________________

61. Adult polycystic kidney disease is inherited in an autosomal- _______________ (dominant/


recessive) pattern, whereas infantile polycystic kidney disease is associated with an autosomal-
_______________ (dominant/recessive) pattern. (pp 71-72)

62. A patient has multiple telangiectasias and skin discolorations, and notes recurrent epistaxis. What
vascular pathology would you expect to find? (p 71) _____________________________________

______________________________________________________________________________

63. What is an effective “cure” for hereditary spherocytosis? (p 71) ___________________________

64. A tall man comes to the emergency room with the combination of a dissecting ascending aorta and
acute mitral valve prolapsed. What disorder best explains these findings? (p 71) _____________

______________________________________________________________________________

65. You notice café-au-lait spots and cutaneous neurofibromas all over a patient’s skin. On which
chromosome is the gene that causes this disorder? (p 71) _______________________________

66. Cystic fibrosis results from a defect in which gene? Which chromosome? Which ion channel? (p
72) _________________________________________________________________________

67. Which drug can be used to loosen mucus plugs in patients with cystic fibrosis? (p 72) __________

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68. A patient with cystic fibrosis has an increased risk a deficiency of which vitamins? (p 72)
______________________________________________________________________________

69. A 4-year-old boy needs to use his upper extremities to push against his legs in order to stand up.
What maneuver is he using? (p 73) _________________________________________________

70. A male patient has a long face, a large jaw, large ears, autism, and macroorchidism. What is the
most likely diagnosis? (p 73) _______________________________________________________

71. Before his anticipated death, a 42-year-old man had received many years of treatment for
depression, severe cognitive decline, and involuntary writhing movements. His father had similar
symptoms shortly before his death. What is the cause of this patient’s most likely disease? (pp 71
and 73)________________________________________________________________________

______________________________________________________________________________

72. A newborn is diagnosed with Down syndrome. She is vomiting bilious material. What is the most
likely cause? (p 74) ______________________________________________________________

73. The BRCA1 and BRCA2 genes are on which chromosome(s)? (p 75)_______________________

NUTRITION
74. Match each set of symptoms/conditions with the vitamin that is deficient. (pp 77-81)

_____ A. Bruising, anemia, swollen gums, and poor wound healing 1. Biotin
_____ B. Cheilosis and corneal vascularization 2. Folic acid
_____ C. Convulsions, hyperirritability, peripheral neuropathy, 3. Vitamin A
and sideroblastic anemia 4. Vitamin B1
_____ D. Dermatitis, enteritis, and alopecia 5. Vitamin B2
_____ E. Dermatitis, enteritis, alopecia, and adrenal insufficiency 6. Vitamin B3
_____ F. Diarrhea, dermatitis, and dementia 7. Vitamin B5
_____ G. Hemolytic anemia, muscle weakness, and neuropathy 8. Vitamin B6
_____ H. Hemorrhagic disease of the newborn 9. Vitamin B12
_____ I. Hypocalcemic tetany 10. Vitamin C
_____ J. Macrocytic, megaloblastic anemia with no 11. Vitamin D
neurologic problems 12. Vitamin E
_____ K. Macrocytic, megaloblastic anemia, subacute combined 13. Vitamin K
degeneration, paresthesia, and optic neuropathy
_____ L. Night blindness
_____ M. Wernicke-Korsakoff syndrome

75. Which vitamin or mineral is a cofactor for many transcription factors, and has dysgeusia as a
symptom of its deficiency? (p 82) ___________________________________________________
76. Does ethanol metabolism by hepatocytes produce or consume NADH? (p 83) ________________
______________________________________________________________________________

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METABOLISM
77. Match each of the following processes with its rate-determining enzyme. (p 84)

_____ A. Cholesterol synthesis 1. Acetyl-CoA carboxylase


_____ B. De novo purine synthesis 2. Carbamoyl phosphate synthetase I
_____ C. De novo pyrimidine synthesis 3. Carbamoyl phosphate synthetase II
_____ D. Fatty acid oxidation 4. Carnitine acyltransferase I
_____ E. Fatty acid synthesis 5. Fructose-1,6-bisphosphatase
_____ F. Glycogenesis 6. Glucose-6-phosphate dehydrogenase
_____ G. Glycolysis 7. Glutamine-PRPP amidotransferase
_____ H. Gluconeogenesis 8. Glycogen phosphorylase
_____ I. Glycogenolysis 9. Glycogen synthase
_____ J. HMP shunt 10. HMG-CoA reductase
_____ K. Ketogenesis 11. HMG-CoA synthase
_____ L. TCA cycle 12. Isocitrate dehydrogenase
_____ M. Urea cycle 13. Phosphofructokinase-1

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page 10 First Aid Express 2016 workbook: BIOCHEMISTRY

78. In the following diagram, fill in the rectangles with the intermediates and products. Which steps of
glycolysis are reversible? (Add one- or two- sided arrows to the squares.) (p 85)
Glucose

Fructose-6-P

Citrate

Isocitrate

Glyceraldehyde-3-P Fumarate

Succinate

3-phosphoglycerate

2-phosphoglycerate

Pyruvate

PDH

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First Aid Express 2016 workbook: BIOCHEMISTRY page 11

79. How many ATP molecules can be created by the aerobic and anaerobic metabolism of glucose? (p
86) ________________________________________________________________________

______________________________________________________________________________

80. The α-ketoglutarate dehydrogenase complex and the pyruvate dehydrogenase complex require the
same five cofactors; what are these cofactors? (p 87) __________________________________
_______________________________________________________________________________

81. List the four irreversible enzymes in gluconeogenesis. (p 89) _____________________________


_______________________________________________________________________________

82. What are Heinz bodies? What are bite cells? (p 90) _____________________________________

______________________________________________________________________________

______________________________________________________________________________

83. Fill in the boxes on the image below, noting the substrates of the urea cycle. (p 93)

84. A two-day-old male infant is irritable and lethargic. Serum studies show increased orotic acid and
hyperammonemia, with a normal hematocrit and MCV. What is the most likely diagnosis? (p 94)
__________________________________________________

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page 12 First Aid Express 2016 workbook: BIOCHEMISTRY

85. Fill in the boxes in the following chart, noting the enzymes that catalyze each step of catecholamine
synthesis. (p 94)

86. A 16-year-old boy presents for a routine visit. Physical examination shows symptoms consistent
with Fabry disease. What is the inheritance pattern of this disease? (p 100) _________________

______________________________________________________________________________

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First Aid Express 2016 workbook: BIOCHEMISTRY page 13

87.Using the list in the box, name the deficient enzyme and accumulated substrate(s) for each lysosomal
storage disease listed in the chart below. (Some answers may be used more than once)
(p 100)

α-galactosidase A
Hexosaminidase A
Sphingomyelinase
α-L-iduronidase
GM ganglioside
2
β-glucocerebrosiderase
Cerebroside sulfate
Galactocerebrosidase
Galactocerebroside
Sphingomyelin
Arylsulfatase A
Glucocerebroside
Ceramide trihexoside
Heparan sulfate / dermatan sulfate
Iduronate sulfatase

Accumulated
Disease Deficient Enzyme
Substrate

Fabry disease

Gaucher disease

Hunter syndrome

Hurler syndrome

Krabbe disease

Metachromatic
leukodystrophy

Niemann-Pick disease

Tay-Sachs disease

88. Most mucopolysaccharidoses are inherited in an autosomal-______________ (dominant/


recessive) pattern. What is the exception? (pp 72 and 100) _______________________________

89. Most sphingolipidoses are inherited in an autosomal-______________ (dominant/recessive)


pattern. What is the exception? (pp 72 and 100) ________________________________________

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90. Which cell type(s) cannot use ketones as an energy source? Why? (p 103) __________________

_______________________________________________________________________________

91. What is the target enzyme of the drug lovastatin? (p 103) ________________________________

92. Which apolipoprotein binds to the LDL receptor? On which lipoproteins is it found? (p 104) _____
______________________________________________________________________________

93. Match the lipoprotein with its function. (p 105)


_____ A. Delivers dietary TGs to peripheral tissues 1. Chylomicron
_____ B. Delivers hepatic cholesterol to peripheral tissues 2. HDL
_____ C. Delivers hepatic TGs to peripheral tissues 3. IDL
_____ D. Delivers TGs and cholesterol to liver 4. LDL
_____ E. Mediates cholesterol transport from periphery to liver 5. VLDL

94. In which organ(s) is HDL produced? (p 105) __________________________________________

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First Aid Express 2016 workbook: BIOCHEMISTRY page 15

Answers

MOLECULAR
1. H1.

2. Heterochromatin.

3. Euchromatin. (It is less condensed and accessible to transcription factors.)

4. Increased melting temperature.

5. Ribonucleotide reductase.

6. Thymidylate synthase; dihydrofolate reductase.

7. This child has Lesch-Nyhan syndrome, which is characterized by intellectual disability, self-
mutilation, aggression, hyperuricemia, gout, and choreoathetosis. It is caused by the absence of
HGPRT, which leads to a defective purine salvage pathway.

8. DNA polymerase III has 3' to 5' exonuclease activity for proofreading.

9. DNA polymerase I.

10. Fluoroquinolones. (They impair bacterial DNA synthesis.)

11. The third position (due to tRNA wobble).

12. Frameshift.

13. Nucleotide excision repair.

14. During nucleotide repair, the entire nucleotide structure is removed and replaced. During base
excision repair, the base is clipped off of the sugar and repaired without the entire backbone of the
DNA being taken apart.

15. The mismatch repair system.

16. A significant decrease in gene transcription.

17. mRNA is the largest type, tRNA is the smallest, and rRNA is the most numerous type of RNA.

18. α-Amanitin. (When consumed, it causes liver failure.)

19. RNA polymerase II.

20. RNA polymerase III.

21. Lupus.

22. Alternative splicing. (In this case, the alternative splicing yields a pathologic protein.)

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page 16 First Aid Express 2016 workbook: BIOCHEMISTRY

23. microRNAs inhibit mRNA, which they target via complementarity.

24. (1) Aminoacyl-tRNA binds to the A site. (2) Peptidyltransferase adds a peptide to the amino acid
chain at site A. (3) The ribosome advances three nucleotides in the 3′ direction, thereby moving the
peptidyl tRNA to the P site.

25. Chaperone proteins.

CELLULAR
26.

27. Transition from G1 to S phase. (Defective cells are not allowed to undergo DNA synthesis.)

28. A-2, B-3, C-1.

29. Goblet cells (secrete mucus) and plasma cells (secrete antibodies).

30. Liver hepatocytes and steroid-hormone–producing cells of the adrenal cortex.

31. I-cell disease.

32. Kinesin.

33. Griseofulvin.

34. Mebendazole..

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First Aid Express 2016 workbook: BIOCHEMISTRY page 17

35. Kartagener syndrome.

36. Microtubules.

37. Intermediate filaments.

38. It increases cardiac contractility by increasing intracellular calcium concentration.

39. A-4, B-1, C-2, D-3.

40. Scurvy; the limes supplied the sailors with the vitamin C they needed during their long voyage (and
earned them the nickname "limeys").

41. Osteogenesis imperfecta.

42. Blue sclerae.

43. Ehlers-Danlos syndrome.

44. Lysyl oxidase.

45. Fibrillin.

46. Emphysema. (α1-Antitrypsin inhibits elastase, which degrades elastin; therefore, lack of α1-
antitrypsin can lead to loss of elastin in the lungs, thereby resulting in emphysema.)

LABORATORY TECHNIQUES
47. Southern: DNA is run on an electrophoresis gel and transferred to a filter; the DNA on the filter is
denatured and exposed to a labeled DNA probe; the double-stranded DNA is visualized when the
filter is exposed to film.
Northern: RNA is run on an electrophoresis gel and transferred to a filter; the RNA on the filter is
exposed to a labeled DNA probe; the hybrid DNA-RNA molecule is visualized when the filter is
exposed to film.
Western: Sample protein is separated via gel electrophoresis and transferred to a filter; labeled
antibody is used to bind and detect the protein of interest.

48. Flow cytometry.

49. Microarrays.

50. A Western blot has greater specificity than an ELISA because it also detects the size of the target
being identified.

51. FISH allows for identification of anomalies at the molecular level, including deletions that are too
small to see on a karyotype.

52. Karyotyping.

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page 18 First Aid Express 2016 workbook: BIOCHEMISTRY

GENETICS
53. When a tumor suppressor gene has only one functional allele due to an inherited mutation or
deletion of the other, and then a cell loses the remaining allele as well. Consequently, having no
functional alleles permits a neoplastic transformation.

54. Locus heterogeneity.

55. 2pq.

56. Prader-Willi syndrome is inherited via deactivation of the paternal copies of genes on chromosome
15 or can occur via uniparental disomy. Symptoms include mental retardation, hyperphagia,
obesity, hypogonadism, and hypotonia.

57. Angelman syndrome is inherited via deactivation of the maternal copies of genes on chromosome
15 or can occur via uniparental disomy. Symptoms include mental retardation, seizures, ataxia, and
inappropriate laughter.

58. A-5, B-1, C-2, D-3, E-4.

59. 50%.

60. False. (Her sons and daughters may be affected.)

61. Dominant; recessive.

62. Arteriovenous malformations. (This constellation of symptoms is typical of hereditary hemorrhagic


telangiectasia.)

63. Refractory hereditary spherocytosis can be cured by splenectomy.

64. Marfan syndrome. (It is associated with cystic medial necrosis of the aorta [which may lead to a
dissection] as well as a floppy mitral valve prone to prolapse.)

65. Chromosome 17.

66. CF is due to a defect in the CFTR gene on chromosome 7 that affects the chloride channel.

67. N-acetylcysteine.

68. Vitamins A, D, E, and K (all of which are fat soluble).

69. Gower maneuver. (This action is necessary due to weakness of the proximal muscles.)

70. Fragile X syndrome. (Remember: Fragile X = eXtra large testes, jaw, and ears.)

71. The patient has classic symptoms of Huntington disease, which is caused by an expansion of CAG
trinucleotide repeats on chromosome 4.

72. Duodenal atresia.

73. BRCA1 is on chromosome 17, BRCA2 is on chromosome 13.

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First Aid Express 2016 workbook: BIOCHEMISTRY page 19

NUTRITION
74. A-10, B-5, C-8, D-1, E-7, F-6, G-12, H-13, I-11, J-2, K-9, L-3, M-4.

75. Zinc.

76. Ethanol metabolism converts NAD+ into NADH, which causes many of the symptoms of chronic

alcohol abuse.

METABOLISM
77. A-10, B-7, C-3, D-4, E-1, F-9, G-13, H-5, I-8, J-6, K-11, L-12, M-2.

78.

Glucose

Glucose-6-P

Fructose-6-P
Citrate
Oxaloacetate

Fructose-1,6-BP
Isocitrate
Malate

Glyceraldehyde- Fumarate α-
3-P ketoglutarat

Succinate Succinyl-CoA
1,3-BPG

3-
phosphoglycerate

2-
phosphoglycerate

PEP

Pyruvate

PDH

Acetyl-CoA

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page 20 First Aid Express 2016 workbook: BIOCHEMISTRY

79. Aerobic glucose metabolism produces 32 ATP molecules per molecule of glucose in heart and liver
and 30 in muscle. Anaerobic glucose metabolism products only 2 net ATP molecules per molecule
of glucose.

80. Vitamins B1, B2, B3, and B5, and lipoic acid.

81. Pyruvate carboxylase, PEP carboxykinase, fructose-1,6-bisphosphatase, and glucose-6-


phosphatase.

82. Heinz bodies are clumps of denatured hemoglobin precipitates that stick to an RBC’s membrane.
When the RBC passes through the spleen, macrophages remove the Heinz bodies, which make
the cell look as if a bite were taken out of it.

83.

84. Ornithine transcarbamylase deficiency. (Orotic aciduria does not have hyperammonemia and often
presents with megaloblastic anemia.)

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First Aid Express 2016 workbook: BIOCHEMISTRY page 21

85.

86. X-linked recessive.

87.

Accumulated
Disease Deficient Enzyme
Substance(s)

Fabry disease α-galactosidase A Ceramide trihexoside

Gaucher disease β-glucocerebrosiderase Glucocereboside

Heparan sulfate,
Hunter syndrome Iduronate sulfatase
dermatan sulfate
Heparan sulfate,
Hurler syndrome α-L-iduronidase
dermatan sulfate

Krabbe disease Galactocerebrosidase Galactocerebroside

Metachromatic
Arylsulfatase A Cerebroside sulfate
leukodystrophy

Niemann-Pick disease Sphingomyelinase Sphingomyelin

Tay-Sachs disease Hexosaminidase A GM2 ganglioside

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page 22 First Aid Express 2016 workbook: BIOCHEMISTRY

88. Autosomal-recessive; Hunter disease.

89. Autosomal-recessive; Fabry disease.

90. Erythrocytes, because they have no mitochondria.

91. HMG-CoA reductase.

92. B-100; VLDL, IDL, LDL.

93. A-1, B-4, C-5, D-3, E-2.

94. Liver and intestine.

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