USMLE Step 1 Review in Biochemistry

Sample questions for review

1QUESTION
You have a cell free preparation of retinal tissue and you add to the experimental incubation an
analog of GTP that has a methylene group at the third ester position so that it cannot hydrolyze to
GDP. The control has an equivalent concentration of GTP added. Both incubations have 11-cis
retinal added and are exposed briefly to light and allowed to incubate for one minute in the dark.
Which of the following is the most likely outcome of this experiment?
A. Cyclic GMP concentration in the control will be greater than in the experimental.
B. Intracellular sodium ion concentration in the control will be greater than in the experimental.
C. Cyclic GMP phosphodiesterase activity in the control will be greater than in the
experimental.
D. Cyclic AMP concentration in the control will be greater than in the experimental.
E. Cyclic AMP phosphodiesterase activity in the control will be greater than in the
experimental.
2QUESTION
Your patient is a13 year old male who has been admitted with classic signs of Type I diabetes.
His urine glucose is elevated, he is always thirsty and has the need to urinate frequently, and he
has lost weight for the past several weeks. One very unusual aspect of the patients history is that
he has never developed ketosis or acidosis, even now when his blood glucose is greatly elevated.
Which of the following enzymes is likely to be absent in this patient?
A. pyruvate dehydrogenase
B. lactate dehydrogenase
C. β-hydroxybutyrate dehydrogenase
D. HMG-CoA synthetase
E. acetyl-CoA carboxylase

3QUESTION
Your patient is a 40 year old Hispanic woman who showed the following results on an oral
glucose tolerance test: Fasting, 102 mg/dl; one hour, 220 mg/dl; two hour, 225 mg/dl; three hour,
195 mg/dl. She was found to be overweight, but did not display increased urination or
ketoacidosis. She was placed on an American Diabetes Association weight loss diet with the
diagnosis of Type 2 diabetes. At the age of 45, she developed ketoacidosis and increased
urination. Which of the following processes explains the change in symptoms?
A. gene inactivation
B. insulinoma
C. insulin resistance
D. islet autoimmunity

4QUESTION
Your patient is a 39 year old female medical student who has been diabetic since the age of 13.
She has just been admitted to the emergency room with a blood pressure of 75/40 (120/80); pulse
120 (78-82); respiration 37 (15-20). After blood samples are pulled for analysis you begin
intravenous insulin at 8 U/hr supplemented. Her blood sample showed a glucose of 720 mg/dl
(70-110), pH of 7.1 (7.35-7.45) and bicarbonate of 9.1 meq/l (21-30). She reports that she has
been under great stress due to the adjustment to medical school for her family and herself and
that she has been very worried about her biochemistry exam next week. Which of the following
is contributing to her elevated blood glucose?
A. decreased epinephrine
B. increased glucocorticoid release
C. increased glucose uptake in the kidney
D. decreased fat oxidation
5QUESTION
Your patient is a 23 year old female medical student who has been diabetic since the age of 10.
She has just been admitted to the emergency room unconscious with the following vital signs:
BP 80/40; pulse 124; respiratory rate 35. Her parents report that she had been studying for a
biochemistry exam for two days and may have been too distracted to take her regular dose of
insulin. Which of the following enzymes is most likely to contribute to her symptoms?
A. HMG-CoA synthase
B. pyruvate dehydrogenase
C. lactate dehydrogenase
D. HMG-CoA reductase
E. pyruvate kinase

6QUESTION
Your diabetic patient in having difficulty in controlling his blood sugar even though his insulin
has been adjusted with twice a day injections and diet is monitored and controlled carefully.
Attempts to control the hyperglycemia with increased insulin leads to frequent hypoglycemic
episodes. Why is this patient having this problem with hyperglycemia under insulin therapy?
A. Counterregulatory hormones increase the renal threshold for glucose.
B. Insulin antibodies are neutralizing the insulin.
C. The tissues are resistant to exogenous insulin.
D. Epinephrine from stress is causing an overproduction of glucose by the liver.
E. Glucagon is causing an overproduction of glucose by the liver.

7QUESTION
Your patient is a 39 year old female medical student who has been diabetic since the age of 13.
She has just been admitted to the emergency room with a blood pressure of 75/40 (120/80); pulse
120 (78-82); respiration 37 (15-20). After blood samples are pulled for analysis you begin
intravenous insulin at 8 U/hr supplemented with potassium. Her blood sample showed a glucose
of 720 mg/dl (70-110), pH of 7.1 (7.35-7.45) and bicarbonate of 9.1 meq/l (21-30). She reports
that she has been under great stress due to the adjustment to medical school for her family and
herself and that she has been very worried about her biochemistry exam next week. Which of the
following blood proteins would you expect to be increased in her blood samples?
A. Gamma globulins
B. C peptide
C. C reactive protein
D. Hemoglobin A1c

8QUESTION
Your patient is a 65 year old male who is having shortness of breath and fatigue. He is found to
have about 90% blockage in his coronary circulation. Which of the following pumps are most
directly affected by his ischemia?
A. potassium pumps
B. sodium pumps
C. proton pumps
D. calcium pumps
E. chloride pumps

9QUESTION
You are the team physician for your local women’s soccer team. Some of the new recruits have
been inactive due to injury for the past four months and are about to start a conditioning
program. Since their aerobic fitness is crucial to the stamina needed for the game of soccer, you
put them on a progressive interval running program. As their aerobic fitness increases, which of
the following enzymes do you expect to mirror that increase?
A. lactate dehydrogenase
B. glucose 6-phosphate dehydrogenase
C. alanine aminotransferase
D. hexokinase
E. succinate dehydrogenase

10QUESTION
Your patient is a 15 year old female that is suffering from anemia. Her laboratory results indicate
her serum iron is 7.5 µmole/liter (normal range 9.8-27.0 µmole/liter). Which of the following
will most likely be elevated in her serum.
A. transferrin
B. ceruloplasmin
C. ferritin
D. haptoglobin
E. albumin

11QUESTION
A team of scientists is developing a drug therapy for colorectal cancer. They have decided to
target the p53 gene. Which of the following treatment strategies will most likely lead to
inhibition of tumor growth?
A. deletion of the p53 gene
B. restoration of function of the p53 protein
C. acceleration of expression of the p53 gene
D. increased destruction of the p53 protein
E. increased half life of the p53 protein

12QUESTION
An 11 year old male was examined for possible HbS-Lepore thalassemia disease following the
diagnosis of the same disease in his 10 year old brother. Analysis of his hemoglobin showed
73% HbS and 10% Lepore hemoglobin. He had no history of sickle crises. What other tests
would you order to help explain the lack of sickle crises?
A. HbH
B. Hb A1c
C. HbF
D. α globin tetramers
E. Hb A2

13QUESTION
You have admitted a 3 month old infant with hepatomegaly and cardiomegaly. Biopsy of skeletal
muscle and liver show fatty accumulations. The infant is hypoglycemic and shortly after
admission he had to be resuscitated from a cardiac arrest. Which of the following blood tests
would you also expect to be abnormal?
A. blood ammonia
B. glucose tolerance
C. fructose tolerance
D. ketones
E. serum protein

14QUESTION
After a carbohydrate meal, the high flux of glucose from the gut is transported across the
hepatocyte membrane by GLUT2, a high Km isoform of the glucose transporter. Which other
tissue would benefit most from GLUT2?
A. red cells
B. adipose tissue
C. pancreatic beta cells
D. skeletal muscle

15QUESTION
You have admitted a 3 month old infant with hepatomegaly and cardiomegaly. Biopsy of skeletal
muscle and liver show fatty accumulations. The infant is hypoglycemic and shortly after
admission he had to be resuscitated from a cardiac arrest. Which of the following energy sources
would prevent the hypoglycemia and cardiac arrest?
A. palmitic acid
B. linoleic acid
C. cardiolipin
D. medium chain triglycerides
E. lecithin

16QUESTION
Your patient was a 40 year old woman. developed memory deficits, bizarre behavior,
myoclonus, weakness and spasticity. Cerebellar ataxia was present. She became comatose with
decerebrate posturing several months after onset of neurological signs. Postmortem brain biopsy
showed spongiform encephalopathy consistent with Creutzfeldt-Jakob disease. Which of the
following is the most likely infectious agent?
A. protein
B. virus
C. bacterium
D. plasmid

17QUESTION
Your patient is a professional football player who has been held to 1.5 yards per carry in a
particularly rough game yesterday. Today he complains of a persistent pain in his chest and is
concerned about it, although it has not been a persistent problem. As part of the workup, you
order creatine kinase isoenzymes. The results show:
Isoenzyme Activity
BB not present
MB normal
MM elevated
What do you tell him about his chest pain?
A. You’re running into too many helmets.
B. You just had a myocardial infarction.
C. You’ve just had a cerebrovascular injury.
D. You’re suffering from angina pectoris.
E. It’s all in your head.

18QUESTION
Your HIV infected patient is taking AZT as a therapeutic agent. You have ordered a blood
workup to check whether she has been taking her AZT as prescribed and the lab report indicates
megaloblastic anemia. Which of the following explain this?
A. AZT blocks the methylation of homocysteine.
B. AZT blocks synthesis of hemoglobin.
C. AZT creates a block in DNA synthesis that resembles folate and cobalamin deficiencies.
D. AZT accelerates polypeptide chain initiation
E. AZT prevents the absorption of cobalamin

19QUESTION
GDPCP is an analogue of guanosine triphosphate (GTP) that cannot be hydrolyzed to GDP. If
you had a patient who had accidentally ingested GDPCP, which of the following toxins would it
imitate?
A. pertussis toxin
B. oligomycin
C. alpha amanitin
D. antimycin A
E. cholera toxin

20QUESTION
Your patient is a 46 year old male that has just been diagnosed with colon cancer. Two tissue
samples are collected, one from the tumor itself and the other from healthy tissue. Which of the
following would be present in the normal sample, but not in the tumor?
A. glycolytic pathway
B. thioredoxin reductase
C. functional p53 protein
D. splicing of hnRNA
E. pentose phosphate pathway

21QUESTION
Your patient is a 58 year old male who has a history of alcoholism. During the physical
examination you find esophageal varicies. As part of the prescribed therapy you include folate
supplements at 400 ug/day, the recommended daily dose for adults. Which of the following liver
functions is impaired in this patient?
A. removal of glutamate residues from folate
B. hydrolysis of folate amide linkages
C. pyrophosphorylation of folate
D. secretion of bile acids needed for solublization
E. synthesis of folate transport protein

22QUESTION
Your patient is a 3 month old male who is showing signs of jaundice with yellowing skin and
sclera. All vital signs are normal, and there are no abnormal physical findings. Blood analysis
shows no anemia. Which of the following liver function tests would you expect to be abnormal?
A. sulfobromophthalein retention
B. direct bilirubin
C. serum transaminase
D. bilirubin diglucuronide
E. galactose tolerance

23QUESTION
Your patient is a 28 year old male who has xerophthalmia and impaired night vision. He has a
history of alcoholism and a dietary avoidance of vegetables. Which of the following is most
likely to account for the night vision symptoms?
A. reduced activity of calmodulin
B. reduced activity of tyrosine kinase
C. increased activity of adenyl cyclase
D. reduced activity of cyclic GMP phosphodiesterase
E. increased activity of cyclic AMP phosphodiesterase

24QUESTION
During your family practice clerkship you are assigned a patient that suffers from gout. You have
learned that uric acid deposits in the soft tissues of the joints leading to inflammation. You notice
that the patient’s symptoms of warm, swollen joints are localized only in the distal extremities,
i.e. the feet and hands. Which of the following best explains the reason for this localization?
A. localized synthesis of uric acid
B. uric acid solubility product constant
C. greater concentration of neutrophils
D. greater autocrine response
E. less efficient circulation

25QUESTION
Your patient is a 53 year old woman with a recently diagnosed HIV infection. She was treated
with a nucleoside analog antiretroviral agent and a protease inhibitor. She gradually developed
severe lethargy, lactic acidosis, and hyperglycemia over a two month period. A liver biopsy
showed fat accumulations. After withdrawal of the antiretroviral agents her symptoms gradually
improved. Which of the following best explains her symptoms?
A. inhibition of insulin action
B. inhibition of glycolysis
C. inhibition of glycogenolysis
D. inhibition of mitochondrial DNA polymerase
E. inhibition of carnitine acyltransferase

26QUESTION
Your patient is a 23 year old female who has developed breast cancer. Her family has a history
of early development of sarcomas and leukemia that follows a Mendelian dominant pattern and
you suspect a predisposition to cancer (Li-Fraumeni Syndrome). If you are correct which gene
are you most likely to find in their tumor tissue with two defective alleles?
A. p53
B. cyclin
C. Rb (retinoblastoma)
D. hMSH2 (mismatch repair)
E. BRCA1

27QUESTION
Your patient is a 40 year old man who has begun to demonstrate signs of dementia accompanied
by myoclonus. The patient reports no unusual dietary practices and he has no history of recent
infections. He has just returned from a European country where an outbreak of mad cow disease
had been reported. If he has been infected by the agent that causes mad cow disease, it would
cause his symptoms by altering which of the following?
A. RNA transcription
B. protein folding
C. RNA translation
D. RNA splicing
E. post-transcriptional protein modification

28QUESTION
Your patient is a 6 year old boy with anemia. A blood workup confirms megaloblastic anemia.
The boy has no past or present history of neurologic problems. You prescribe a multivitamin
supplement with a folate dose of 200 ug/day. A follow-up visit two weeks later shows a small
but measurable response. You prescribe an extra 200 ug/day of folate for a total of 400 ug/day.
At a two week follow-up visit the boy shows a response, but still not a complete recovery from
the anemia. You continue to increase the dose at 200 ug/day increments until a dose of 1000
ug/day provides complete recovery from the symptoms of anemia. There are no other effects on
the patient so you prescribe 1000 ug/day as a maintenance dosage. Which of the following
vitamin activation processes is likely to be defective in this patient?
A. hydroxylation
B. pyrophosphorylation
C. ADP ribosylation
D. amide bond formation
E. polyglutamylation

29QUESTION
Your patient is a one day old female who presents with jaundice. There are no other significant
findings and the vital signs were stable indicating idiopathic neonatal jaundice. As a precaution
you order 8 hours of phototherapy under bililights per day. The jaundice in both skin and sclera
decreased over the next three days until the phototherapy was discontinued. Which of the
following best explains the mechanism by which phototherapy with bililights reduces the
jaundice?
A. It increases the level of vitamin D
B. It oxidizes bilirubin to create a more water soluble form that can be excreted.
C. It causes conjugation with glycine.
D. It causes further metabolism of bilirubin to biliverdin.

30QUESTION
Your patient is a 6 year old Caucasian male who has a history of urinary tract infections.
Urinanalysis shows glucose in the urine. A glucose tolerance test gives the following results:
Fasting, 95 mg/dl; one hour, 230 mg/dl; two hour, 190 mg/dl; three hour, 150 mg/dl. The patient
is normal for his age in both height and weight. There is no history of ketosis. Which of the
following is most likely to be causing these symptoms in this patient?
A. insulin resistance
B. beta cell destruction
C. defective GLUT2
D. elevated glucagon

31QUESTION
Your patient is a 23 year old male who is having an annual health examination. All vital signs
are normal, and there is no abnormal history or physical findings. Even though the patient is
asymptomatic, blood analysis shows a direct bilirubin of 3 mg/dl (normal 0-0.2 mg/dl). BSP
(sulfobromophthalein) shows no regurgitation. Other liver function tests are normal. What is the
most likely diagnosis for this patient?
A. Dubin-Johnson syndrome
B. Crigler-Najar syndrome
C. Rotor’s syndrome
D. Gilbert’s syndrome

32QUESTION
A 28 year old male with no previous major illnesses presents with renal failure. Urinanalysis is
positive for protein and hemoglobin. He has just had an episode of hemoptysis. Chest x-ray
shows progressive bilateral fluffy infiltrates. Which of the following would most likely be
elevated in the blood.
A. antibodies
B. basement membrane
C. DNA
D. histone
E. alkaline phosphatase

33QUESTION
Your patient presents with anemia, fatigue, and back pain. Blood analysis shows the anemia is
normocytic, normochromic. Urinanalysis is positive for proteinuria. What protein is most likely
to be found in large amounts in the urine?
A. histone antibodies
B. antibody light chains
C. IgM
D. albumin

34QUESTION
Your patient is a one month old male that has a history of vomiting after feeding. The patient is
lethargic and afebrile. A blood culture rules out sepsis. Urinary orotic acid is 100x greater than
normal and no reducing substances are present. Blood glucose values were normal, but blood
ammonia was 50x normal. Which of the following metabolic cycles has an enzyme deficiency?
A. activated methyl cycle
B. Cori cycle
C. alanine cycle
D. urea cycle
E. tricarboxylic acid cycle

35QUESTION
Your patient is a 12 year old male that has only recently developed a penis. The gonads have
developed as testes with internal epididymis, vas deferens, and seminal vesicles. You postulate
that this is due to the deficiency of which of the following enzymes involved in steroid
synthesis?
A. 21-hydroxylase
B. 5α reductase
C. 11β-hydroxylase
D. 17α-hydroxylase

36QUESTION
Your patient is an 18 year old female who has been brought to the emergency room by her
parents. She is conscious but unresponsive to questions. She is too weak to stand on the scales
but you note that she is emaciated for her height with protruding bones. Her skin is thin, dry,
inelastic, pale, and cold. A blood workup shows normocytic, normochromic anemia. She is
positive for ketosis with blood pH 7.25 (normal 7.35-7.45) and bicarbonate 10.8 meq/l (normal
21-30). Which of the following enzymes is present in her liver tissue that is not normally
present?
A. HMG CoA synthase
B. pyruvate carboxylase
C. carnitine acyltransferase
D. glycogen phosphorylase
37QUESTION
Your patient is an 18 year old female who has been brought to the emergency room by her
parents. She is conscious but unresponsive to questions. She is too weak to stand on the scales
but you note that she is emaciated for her height with protruding bones. Her skin is thin, dry,
inelastic, pale, and cold. A blood workup shows normocytic, normochromic anemia. She is
positive for ketosis with blood pH 7.25 (normal 7.35-7.45) and bicarbonate 10.8 meq/l (normal
21-30). Which of the following metabolites is being used by her brain to help spare blood
glucose?
A. short chain fatty acids
B. alanine
C. β-hydroxybutyrate
D. glycogen
E. acetone

38QUESTION
Your patient is a 3 month old male that has been born with no external genetalia. Laboratory
analysis shows a normal compliment of X and Y chromosomes. He is suffering from electrolyte
imbalance and water loss. Which of the following is most likely to be defective?
A. 17α-hydroxylase
B. 21α-hydroxylase
C. aromatase
D. desmolase

39QUESTION
Your patient is a 23 year old male that you are treating for streptococcal pharyngitis. You have
prescribed penicillin which helps to produce a remission in symptoms. Several days later the
patient’s symptoms have returned and a throat culture is positive for streptococcus. Which of the
following best explains the mechanism for this penicillin resistance.
A. activation of bacterial β-lactamase
B. β-lactamase carrying plasmid
C. β-lactamase carrying retrovirus
D. β-lactamase carrying bacteriophage

40QUESTION
Your patient is a 1 day old male who was born with microcephaly and cardiac anomalies.
Laboratory data show a normal phenylalanine hydroxylase activity and the urine was negative
for phenolic acids or ketones. Whose blood phenylalanine concentration will best help confirm
the diagnosis?
A. sister
B. grandparent
C. mother
D. father
E. brother

41QUESTION
Your patient is a 60 year old female who you are treating for deep vein thrombosis
(thrombophlebitis). Her prothrombin time has been restored to normal with a combination of
heparin and dicumarol. The heparin is discontinued and she is given a supply of dicumarol. Four
weeks later she calls you to report that her urine is bright red and she is consequently
hospitalized in order to treat the bleeding with menadione. Which of the following protein
modifications was inhibited by the dicumarol in this patient?
A. gamma carboxylation
B. proline hydroxylation
C. serine phosphorylation
D. tyrosine phosphorylation
E. cysteine disulfide formation

42QUESTION
Your patient is a 20 year old woman who complains of repeated attacks of abdominal pain. She
reports symptoms that suggest jaundice that accompany these attacks and her spleen is enlarged
and tender upon examination. A blood analysis shows a mild anemia and small, spherical red
cells which show increased fragility in the osmotic fragility test. Which protein is most likely to
be missing from her red cells.
A. glucose 6-phosphate dehydrogenase
B. spectrin
C. glutathione peroxidase
D. methemoglobin reductase

43QUESTION
Your patient is a 22 year old female who has been referred to you after a routine cholesterol
screening test revealed a markedly decreased plasma cholesterol level of 0.46 mmol/l (3.9-6.2).
Laboratory analysis produced the following: low density lipoprotein (LDL), 0.03 mmol/l (1.3-
3.4); high density lipoprotein (HDL), 0.39 mmol/l (0.8-2.4). Her prothrombin time is slightly
increased. She has no present complaints, other than numbness in her feet and occasional
difficulty maintaining her balance. She exhibited a positive Rhomberg sign during the physical
examination. Her past medical history reveals a malabsorption syndrome which has been treated
with a low fat diet. She also has noticed difficulty with night vision over 5 years ago and she has
noticed a gradual deterioration over this time. An intestinal biopsy showed normally formed villi
that stained positive for fat. Which of the following lipoproteins is most likely to be missing
from her blood?
A. apolipoprotein B
B. apolipoprotein E
C. apolipoprotein CII
D. apolipoprotein (a)

44QUESTION
Your patient is a 58 year old male biochemistry professor who has come to your office with
swelling and redness in the joints of his hands and feet. The swollen tissue is tender to the touch.
His temperature is 39.2 C and blood analysis shows a leukocytosis. The RBC sedimentation rate
is elevated. If you decide to prescribe allopurinol, what do you expect it to do?
A. increase blood xanthine levels
B. reduce bacterial sepsis
C. acidify the blood
D. lower body temperature

45QUESTION
Your patient is a 22 year old female who has been referred to you after a routine cholesterol
screening test revealed a markedly decreased plasma cholesterol level of 0.46 mmol/l (3.9-6.2).
Laboratory analysis produced the following: low density lipoprotein (LDL), 0.03 mmol/l (1.3-
3.4); high density lipoprotein (HDL), 0.39 mmol/l (0.8-2.4). Her prothrombin time is slightly
increased. She has no present complaints, other than numbness in her feet and occasional
difficulty maintaining her balance. She exhibited a positive Rhomberg sign during the physical
examination. Her past medical history reveals a malabsorption syndrome which has been treated
with a low fat diet. She also has noticed difficulty with night vision over 5 years ago and she has
noticed a gradual deterioration over this time. An intestinal biopsy showed normally formed villi
that stained positive for fat. Which of the following best explains the positive Rhomberg sign?
A. vitamin E deficiency
B. vitamin A deficiency
C. vitamin D deficiency
D. vitamin K deficiency

46QUESTION
You are conducting an autopsy on a 37 year old male patient who has died from a ruptured aorta.
He is 79 inches tall and his weight is 200 lb. His hands display arachnodactyly and an eye
examination reveals a displaced lens. Which component of connective tissue is most likely to be
associated with the cause of death?
A. hyaluronic acid
B. collagen
C. fibrillin
D. desmosine

47QUESTION
Your patient suffers from mental deterioration and skeletal deformities. The urine contains
excessive mucopolysaccharides. Laboratory analyses show many enlarged lysosomes in the
tissues and elevations of lysosomal enzymes in the serum. An analysis of the mesenchyme-
derived tissues from this patient would most likely be deficient in which of the following
enzymes?
A. signal peptidase
B. iduronidase
C. sulfatase
D. phosphotransferase

48QUESTION
Your patient is a 6 month old male that is exhibiting mental retardation and microcephaly and
micrognathia. The eye examination reveals corneal clouding and the liver and spleen are
enlarged. Which of the following cellular processes is most likely to be defective?
A. lysosomal digestion
B. propeptide digestion
C. hydroxylation
D. aggrecan aggregation

49QUESTION
Your patient is a 1 week old female with hypertonicity, abnormal reflexes, and a strong maple
syrup odor from the urine. Which of the following amino acids needs to be restricted in her diet?
A. glycine
B. threonine
C. leucine
D. cysteine
E. lysine

50QUESTION
Your patient is a 3 month old female presenting with pallor and lethargy. A blood workup shows
moderate anemia and hypochromic RBCs of varied size and shape. A laboratory analysis of the
hemoglobin reports the presence of hemoglobin H, a form of hemoglobin that has a greater than
normal affinity for oxygen. Which of the following explains this increased affinity for oxygen?
A. absence of cooperativity between subunits
B. increased affinity for BPG
C. increased Bohr affect
D. increased exposure of heme
E. lack of quaternary structure
51QUESTION
Your patient is a 38 year old chronic alcoholic female. She has been homeless for the past year
and her diet has consisted primarily of starchy processed “junk” foods, in addition to alcoholic
beverages. Her skin is noticeably thickened with the presence of follicular hyperkeratosis, or
gooseflesh. Also, she has a minor bacterial eye infection due to dryness from reduced tear
production. What other symptoms do you expect to find in examining this patient?
A. pain in the long bones
B. impaired night vision
C. bleeding gums
D. hemolytic anemia
E. osteomalacia

52QUESTION
Your patient was a 25 year old male who was admitted to the hospital in a state of starvation. He
had been homeless for several months and become depressed and had not eaten for 4 days. You
start him on a diet containing 60% of the calories from carbohydrates as an attempt to spare
protein and restore normal blood sugar regulation. Which of the following enzymes is most
likely to increase in concentration in his liver?
A. glucose 6-phosphatase
B. glucokinase
C. HMG-CoA synthetase
D. carnitine acyltransferase
E. citrate synthetase
53QUESTION
Your patient is being treated for leukemia with methotrexate. The initial treatments appear to be
effective, but after a few months of therapy the white cell count suddenly starts to increase again.
Cytological analysis of the white cells shows small circular bodies accumulating in the nucleus.
What do these nuclear bodies represent?
A. aborted DNA repair
B. circularized telomeres
C. fragmenting host DNA
D. viral chromosomes
E. amplified genes

54QUESTION
Your patient is a 30 year old man with mild weakness in his arms and occasional episodes of
abdominal pain accompanied by cramps. There is no diarrhea. There is a family history of
similar episodes. His abdomen is distended during these episodes. Which of the following
intermediates are part of the affected pathway?
A. hypoxanthine
B. carbamoyl phosphate
C. delta aminolevulinic acid
D. bilirubin glucuronide
E. biliverdin

55QUESTION
Your patient has is a 20 year old male that has come to you due to a tremor in his upper
extremities. During the physical examination you find Kayser-Fleisher rings in his eyes. Which
of the following do you expect to be below normal in the blood?
A. gamma globulins
B. transferrin
C. haptoglobin
D. albumin
E. ceruloplasmin

56QUESTION
Your patient has a history of smoking, and untreated hyperlipoproteinemia and hypertension.
Coronary angiography results show that the coronary circulation is 90% obstructed. Which of the
following is the most likely effect on metabolism in the myocardium?
A. Increased conversion of pyruvate to acetyl-CoA
B. Increased conversion of pyruvate to oxaloacetate
C. Increased transamination of amino acids to TCA cycle intermediates
D. Decreased conversion of pyruvate to lactate
E. Decreased consumption of free fatty acids as fuel

57QUESTION
Your patient has been diagnosed with pernicious anemia. Since part of this syndrome involves
megaloblastic anemia, you decide to treat the patient with folate supplements. Which of the
following do you expect to happen?
A. Folate will not treat either the myelopathy or the megaloblastic anemia.
B. Folate will successfully treat the megaloblastic anemia, but not the myelopathy.
C. Folate will successfully treat the myelopathy and the megaloblastic anemia.
D. Folate will successfully treat the myelopathy, but not the megaloblastic anemia.
E. Folate will not be absorbed by patients with pernicious anemia.

58QUESTION
Your patient is an 8 year old boy who has been showing intermittent neurological abnormalities
since the age of one. His mother noticed that this always occurs after a stressor like febrile illness
or fatigue. A blood test reveals elevated lactate and pyruvate, but normal for hematocrit,
electrolytes, alanine, ketones, fasting glucose, and insulin. You suspect a defective enzyme and
order an assay of cultured skin fibroblasts. Which of the following enzymes would you be
interested in testing?
A. pyruvate dehydrogenase
B. PEP carboxykinase
C. pyruvate kinase
D. alanine aminotransferase
E. lactate dehydrogenase

59QUESTION
Your patient is a female admitted at 48 hours after birth. She was cyanotic due to deficient
oxygenation of the blood. A blood test reveals a pH of 6.98, elevated lactate and pyruvate, and
elevated ketones. A previous male child died within 24 hours after birth leading you to consider
a genetic deficiency as the cause of this siblings disease. Which of the following treatments
would be the most likely to help treat the patient while you tried to identify the deficiency?
A. avidin
B. biotin
C. thiamine
D. folate
E. cobalamin

60QUESTION
A 60 year old male complains of headaches and loss of muscular coordination. His blood values
for hemoglobin are 12.1 (normal, 13.5-17.6 g/dL); urinary δ-aminolevulinic acid (ALA) is 18.9
mg/24hr (normal, 1-7 mg/24hr). Poisoning by which of the following metal ions is responsible
for this patient’s condition?
A. calcium
B. lead
C. magnesium
D. zinc
E. iron

61QUESTION
Your patient is a female child admitted to the hospital soon after delivery with severe hypotonia,
convulsions, and difficulty with feeding. All of these symptoms are produced by neurological
disease and you confirm this with laboratory data that show the accumulation of very long chain
fatty acids (VLCFA; C24:0) in sphingomyelin. Which of the following best explains the nature
of this defect?
A. Mitochondrial β-oxidation is defective.
B. Carnitine acyltransferase is defective.
C. Peroxisomal β-oxidation is defective.
D. Sphingomyelin synthesis is defective.
E. VLCFA CoA synthetase is defective.

62QUESTION
Your patient is a 2 day old male who was born full term with a spontaneous vaginal delivery. He
became gradually lethargic and irritable with an eventual onset of stupor and coma. Plasma
ammonia was 1700 µmole/L (normal <35 µmole/L) and glutamine at 1400 µmole/L (normal,
550-650 µmole/L). Urinary orotic acid was 100X normal. Which of the following best accounts
for this?
A. reduced availability of ammonia to synthesize pyrimidine rings
B. reduced availability of arginine to synthesize pyrimidine rings
C. build up of carbamoyl phosphate accelerates pyrimidine synthesis
D. build up of aspartate accelerates pyrimidine synthesis
E. reduced availability of glutamine for cytidine synthesis

63QUESTION
Your patient is a full term newborn male. After 48 hours he became lethargic and progressed
over the next 24 hours to stupor and coma. His blood ammonia was 1600 µmoles/L (normal, <35
µmoles/L), serum glutamine was 1450 µmoles/L (normal, 550-650 µmoles/L), and no detectible
citrulline. Urinary orotate was 100X normal. Which one of the following explains these
findings?
A. argininosuccinate synthetase deficiency
B. mitochondrial carbamoyl phosphate synthetase deficiency
C. arginase deficiency
D. cytoplasmic carbamoyl phosphate synthetase deficiency
E. ornithine transcarbamolyase deficiency

64QUESTION
Your patient is a 30 year old male Ashkenazic Jew and laboratory tests have determined that he
has a genetic deficiency for β-glucocerebrosidase and an accumulation of glucocerebroside in his
liver, spleen, and bone marrow cells. Which of the following diseases does he most likely have?
A. Gaucher’s
B. Tay-Sachs
C. Krabbe’s
D. Farber’s
E. Neiman-Pick

65QUESTION
A 16 month-old girl of middle eastern parents is admitted with growth retardation. Her long
bones show demineralization with bowing of both the arms and the legs. The patient avoided
dairy products due to a lactose intolerance and her diet was composed primarily of eggs,
potatoes, and other baked goods. When she was taken outside by her mother they were both
heavily clad so as to not expose any of their skin, effectively blocking exposure to the sun. What
is the most likely diagnosis from the choices below?
A. Niacin deficiency
B. Vitamin D deficiency
C. Thiamine deficiency
D. Vitamin A deficiency
E. Vitamin K deficiency

66QUESTION
A report in the New England Journal of Medicine describes a patient who had been admitted
with recurrent syncope and dyspnea. Electrocardiogram data showed left ventricular
hypertrophy. Genetic analysis revealed a missense mutation in the troponin T gene resulting in
impaired muscle contraction. What functional abnormality would result from this abnormality?
A. Inability of the myosin head group to release ADP
B. Reduced displacement of tropomyosin from the actin fibril
C. Reduced binding of calcium by troponin
D. Reduced interaction of myosin head groups with tropomyosin
E. Inability of actin to bind ATP

67QUESTION
A new blood substitute is being developed to be used during surgery in order to reduce the
demand for donated blood. One of the components is chemically modified hemoglobin that is
crossed linked to form stable αβ dimers. How will the oxygen transport characteristics of these
dimers in solution differ from that of normal hemoglobin in red blood cells.
A. They will bind but be unable to release oxygen.
B. They will be unable to bind carbon dioxide.
C. They will be unable to bind carbon monoxide.
D. They will be unable to bind 2,3-BPG.
E. They will be unable to bind oxygen.

68QUESTION
Your patient has a genetic disorder that has produced hepatomegaly. Ingestion of fructose
produces no increase in serum glucose. A biopsy shows that the liver glycogen is of normal
structure. Which of the following enzyme deficiencies is most likely to explain these
observations?
A. Hexokinase
B. Glucose 6-phosphatase
C. Fructose 1,6-bisphosphatase
D. Glycogen phosphorylase
E. Fructose 1-phosphate aldolase

69QUESTION
Your patient is a full term newborn male. After 48 hours he became lethargic and progressed
over the next 24 hours to stupor and coma. His blood ammonia was 1600 µmoles/L (normal, <35
µmoles/L), serum glutamine was 1450 µmoles/L (normal, 550-650 µmoles/L), and no detectible
citrulline. Urinary orotate was 100X normal. Which of the following is most likely to treat the
problem?
A. phenylacetylglutamine
B. hippuric acid
C. phenylbutyrate
D. glutamine
E. ornithine

70QUESTION
Your patient is a 10 year old male who has had a history of muscle weakness, mild muscle
wasting, and low tolerance to exercise since age 6. He has a normal fasting blood sugar and
resting blood lactate is normal. However, the blood lactate increases dramatically upon exercise.
Muscle creatine phosphate levels are much lower than normal. Which of the following is most
likely defective?
A. Complex I of the ETC
B. pyruvate dehydrogenase
C. glycogen phosphorylase
D. malate-aspartate shuttle
E. carnitine acyltransferase

71QUESTION
Your patient is a 3 year old female with recurrent pulmonary infections. Her mother reports that
she has a chronic cough and frequently coughs up very thick mucus. She also reports that in a
variety of situations in which she would affectionately or playfully give her daughter a kiss, there
was a salty taste to her skin. Which of the following is most likely to be defective in this patient?
A. proton channels
B. bicarbonate channels
C. potassium channels
D. sodium channels
E. chloride channels

72QUESTION
You have a patient with Type II diabetes and you decide to prescribe a trace element that will
possibly help her response to insulin. What is the trace metal?
A. Copper
B. Selenium
C. Fluorine
D. Chromium
E. Molybdenum