ITEMS 01-02

A 6 month old baby boy began to vomit and ceased to gain weight. He became habitually
drowsy and had hyperthermia and increased pulse rate. An electrocephalogram showed
abnormalities and clinical analysis revealed abnormal amounts of glutamine and ammonia in
blood.

01. What metabolic pathway is most likely to be impaired, leading to hyperammonemia and
glutameinemia in this patient?
(A) ketogenesis
(B) de novo synthesis of purines
(C) synthesis of urea
(D) transamination of amino acids and gluconeogenesis
(E) catabolism of purines
02. The most likely enzyme deficiency afflicting this young patient is
(A) alanine aminotransferase (ALT
(B) aspartate aminotransferase (AST)
(C) glutaminase
(D) carbomylphosphatase synthetase I.
(E) L-amino acid oxidase

ITEMS 03-06
Match each numbered items
(A) Epinephrine
(B) Serotonin
(C) Creatinine
(D) Carnitine
(E) Melatonin

03. End product of tryptophan metabolism in the pineal gland (E)

04. End product of tyrosine metabolism in the adrenal gland (A)
05. A reservoir of metabolic energy in the muscle by the intermediary formation of a guanidine
phosphate high energy bond (C)
06. A carrier of long-chain fatty acids across the inner mitochondrial membrane (D)
ITEMS 07-09
A 15 year old girl is seen by a dermatologist for removal of multiple squamous cell carcinomas
of the skin. The patient has nearly white hair, pink irises, very pale skin and a history of burning
easily when exposed to the sun.

07. The patient’s condition is caused by a disorder involving which of the following type of
molecues?
(A) Aromatic amino acids
(B) Branched amino acids (maple syrup disease)
(C) Mucopolysachirdes
(D) Spingolipids
(E) Sulfur-containing amino acids (cystinuria)
08. The patient’s condition is due to a deficiency in which of the following enzymes?
(A) Pheylaline hydroxylase
(B) Dihydrobiopterin reductase
(C) Tyrosinase
(D) Tryptophan hydroxylase
(E) Homogentisitc acid oxidase (Alkaptonuria)
09. Defective synthesis of which of the following molecules is responsible for the clinical picture
of this patient?
(A) Serotonin
(B) Gamma-amino butyric acid (glutamic)
(C) N-acetyl glutamate (glutamic)
(D) Melatonin (tryp)
(E) Melanin (tryo)

ITEMS 10-11
A newborn appears normal at birth, but develops vomiting and diarrhea accompanied by
jaundice and hepatomegaly within the first few weeks of life. Within months, the baby has
obvious cataracts and ascites. The infant is switched to a milk-free diet, which stabilizes but
does not completely reverse his condition. By one year of age, he has developed mental
retardation.

10. Which of the followins is the most likely diagnosis?

(A) Cystic fiborisis
(B) Galactosemia
(C) mcArdle’s disease
(D) Von Gierke’s disease
(E) Wilson’s disease
11. Deficiency of which of the following enzymes would be most likely to cause this disorder?
(A) Galactokinase
(B) Galactose-1-P Uridyl transferase
(C) Lactase
(D) B-galactosidase
 (E) Aldose reductase

12. Skeletal muscle cannot release free glucose to keep normoglycemia, because muscle cells
do not express the enzyme glucose-6-phosphatase. The step, which cannot occur in the muscle
cells is
(A) Glucose +ATP  glucose-6-P +ADD
(B) Glycogen + nPi n glucose-1-P +Glycogen-n
(C) Glucose-1-P +UTP UDP-Glucose +2Pi
(D) Glucose-1-PGlucose-6-P
(E) Glucose 6-P +H2O -> glucose +Pi

13. In which of the following pathological conditions would tyrosine be essential in the diet of a
patient for normal growth?
(A) Alkaptonuria
(B) Albinism
(C) Phenylketonuria
(D) Tyrosinosis
(E) Homocystinuria

14. The lack of essential amino acids, may lead to negative nitrogen balance. Which one of the
following amino acids must be supplies to the normal adult human died in order to maintain
nitrogen balance?
(A) threonine
(B) alanine
(C) lysine
(D) tyrosine
(E) serine

15. Biochemical events that have to occur for signal transduction to promote hepatic
glycogenolysis by glucagon, includes which of the following?
(A) Binding of glucagon to Gs protein
(B) Exhange of ADP for ATP at a-subunits of Gs protein
(C) ADP-ribosylation of Gsa-GTP complex
(D) Binding cAMP to regulatory subunits of Protein Kinase A
(E) Activation of guanyl cyclase

ITEMS 16-19
Match the following items:
(A) Adenine
(B) Creatinine
(C) Cysteine
(D) Arginine
(E) Methionine
16. A structural component of glutathione (G-SH) C
17. The immediate precursor of urea during urea cycle Ds

18. A major catabolic precursor of uric acid A

19. A potential methyl donor is several methylation reactions E

20. Humans are unable to transform tyrosine to which of the following metabolic products,
because is an essential molecule?
(A) Phenylalanine
(B) Dopamine
(C) Melanin
(D) Epinephrine
(E) Fumarate

21. Allopurinol is used to treat gout. Allopurinol lowers blood uric acid levels because it
(A) Blocks tubular reabsorption of uric acid
(B) Inhibits de novo pyrimidine synthesis
(C) Increases leukocyte uptake of uric acid
(D) Inhibits hypoxanthine-guanine phosphoribosyl transferase
(E) Inhibits xanthine oxidase

ITEMS 22-23
A 2 year old boy is presented by his mother to the pediatrician. The patient exhibits darkening
of tendons and cartilage and urinalysis reveals the presence of homogenistic acid. Genetic
analysis reveals decreased activity of homogenistic acid oxidase.

22. The most likely diagnosis is

(A) Methylmalonic aciduria
(B) Alkaptonuria
(C) Homocystinuria
(D) Hartnups disease
(E) Phenylketonuria
23. Ingestion of protein rich in which of the following amino acids would be expected to
increase the excretion of homogenistic acid in this young patient?
(A) Cysteine
(B) Methionine
(C) Histidine
(D) Homoserine
(E) Tyrosine

24. The inhibitor neurotransmitter gamma-aminobutyric acid (GABA) is synthesized upon

carboxylation of glutamate. The coenzyme from which of the following vitamins is required in
this reaction?
(A) Thiamine
 (B) Pyridoxal
(C) Biotin
(D) Riboflavin
(E) Folate

25. Methotrexate (MTX) is used as an antitumor agent due to its structural resemblance to
(A) Folate
(B) Ascorbic acid
(C) Niacin
(D) Panthotenate
(E) Riboflavin

26. A 43 year old Franciscan friar has been fasting for religious reasons for 24 hours. Which of
the following enzymes is responsible for helping to maintain blood glucose levels by releasing
glucose from its hepatic glycogen storages?
(A) G-6-P dehydrogenase
(B) Pyruvate dehydrogenase
(C) Glycogen synthase
(D) Glycogen phosphorylase
(E) Glucocerebrosidase

27. Genetic expression of some genes varies according to the tissue function. Which of the
following glycogenolytic enzymes is genetically expressed in hepatic tissue but is not in skeletal
muscle?
(A) glycogen synthetase
(B) glycogen phosphorylase
(C) glucose-6-P dehydrogenase
(D) pyruvate dehydrogenase
(E) glucose-6-phosphate

ITEMS 28-30
During Lent, a 6 year old African child from Congo develops hemoglobinuria and peripheral
vascular collapse secondary to intravascular collapse secondary to intravascular hemolysis,
several hours after having for the first time in his life a meal of flava beans. Blood studies show
free plasma hemoglobin and increased unconjugated bilirubin.

28. The most likely clinical diagnosis of this young patient is

(A) vitamin C deficiency
(B) glucose-6-phosphate dehydrogenase deficiency
(C) pyruvate kinase deficiency
(D) glucose-6-phosphatase deficiency
(E) vitamin K deficiency
29. which of the following metabolic pathways is more likely to be directly affected in this
patient because of the specific enzyme deficiency?
 (A) B-oxidation of long chain fatty acids
(B) TCA cycle
(C) pentose phosphate shunt
(D) gluconeogenesis
(E) anaerobic glycolysis
30. the specific deficiency detected in this patient results in decreased production of which of
the following molecules?
(A) ATP
(B) FADH2
(C) NADPH (H+)
(D) glucose
(E) uric acid

31. Tryptophan is used by animals as the metabolic precursor of the hormones serotonin,
melatonin and the water soluble vitamin-
(A) biotin
(B) ascorbate
(C) niacin
(D) riboflavin
(E) folate

32. Transamination of alanine to generate pyruvate requires the enzyme alanine

aminotransferase (ALA) and the coenzyme
(A) Methyl-tetrahydrofolate
(B) Pyridoxal phosphate
(C) FAD
(D) Thiamine pyrophosphate
(E) Methyl-cobalamin

ITEMS 33-34
A 18 year old woman experiences abdominal distention, nausea, cramping, flatulence, and
diarrhea one hour after having a low calorie breakfast of skim milk and low fat yogurt.

33. These symptoms are most likely to be associated with

(A) classical galactosemia
(B) essential fructosuria
(C) lactose intolerance
(D) hereditary fructose intolerance
(E) diabetes mellitus
34. This disorder may be treated by a diet void of
(A) Fiber rich foods
(B) Dairy products
(C) Aspartame
(D) Sucrose
 (E) Saturated fat
35. Histamine is a compound that is active both as a vasodilator and in the mediation of allergy.
Histamine is synthesized from histidine in
(A) TPP-depedent oxidative decarboxylation reaction
(B) Pyridoxal phosphate-dependent transamination reaction
(C) Pyroxidal phosphate-dependent decarboxylation reaction
(D) Biotin-dependent carboxylation reaction
(E) The statement is false

36. A 12 year old female patient is afflicted with leukemia. The drug therapy used in this patient
includes a structural analog of folate. Depletion of THF in proliferating cells is observed in
patients treated with
(A) Cycloserine
(B) Rifamppicin
(C) Mevinolin
(D) Azaserine
(E) methotrexate

37. Failure to digest properly which of the following carbohydrates may cause intestinal distress
in infants patients?
(a) Maltose
(b) Amylose
(c) Cellulose
(d) Lactose
(e) Raffinose

38. If 14C-acetyl-CoA labeled in the methyl group is fed to a rat, radioactive molecules
subsequently isolated from the liver would include all of the following EXCEPT?
(a) Palmitic acid
(b) Cholesterol
(c) Cholic acid
(d) Testosterone
(e) Phenylalanine

39. During her 24 hour shift at the hospital a young nurse is unable to have lunch and dinner.
Nevertheless, her blood glucose levels are normal. Which of the following hormones is
responsible for helping to maintain normoglycemia by releasing free glucose from hepatic
storages?
(A) Progesterone
(B) Insulin
(C) Glucagon
(D) Somatostatin
(E) Cortisol
40. Lactose intolerance is due to
(A) Lack of intestinal flora
(B) A lack of B-galactosidase
(C) Decreased aldolase B activity
(D) Decreased hepatic levels of phosphogalactoseuridyl transferase
(E) Deficiency in galactokinase

ITEMS 41-42
A 2 week old baby is presented to the emergency room by his parents. They were fearful that
their baby accidently ingested poison because they noticed a black discoloration in the diapers
where the urine had collected, a couple of ours after they removed the diapers.
41. What is the more likely diagnosis?
(A) Alkaptonuria
(B) Hartnup’s disease
(C) Joseph’s syndrome
(D) Cystinuria
(E) Phenylketonuria
42. Which of the following amino acid pathways is defective in this patient?
(A) branched side-chain amino acids (Val, Leu, Ile)
(B) sulfide amino acids (Cys and Met)
(C) Imino Acid (Pro)
(D) Aromatic amino acids (Phe and Tyr)
(E) Basic amino acids (Arg and Lys)

43. a 5 year old Egyptian boy receives a sulfonimde antibiotic as a prophylaxis for a recurrent
urinary tract infections. Which of the following is the most likely mechanism of action of
sulfamides?
(A) inhibits bacterial peptidyl transferase activity
(B) it ADP-ribosylates bacterial EF-Tu during elongation
(C) It inhibits dihydrofolate reductase acting as a folate analog
(D) it inhibits folate synthesis acting as PABA analog
(E) it inhits protein synthesis acting as a Tyr-tRNA analog

44. which of the following reactions is impared in a patients diagnosed with von Gierke’s
disease?
(A) Glucose +ATP  Glucose 6-P +ADP
(B) glucose-6-P +H2OGlucose +Pi
(C) glucose 1-P +UTP  UDP – Glucose +2Pi
(D) glycogen +Pi  Glucose 1-P
(E) UDP-glucose + glycogen primerglycogen +UDP

45. a newborn baby is afflicted with a rare form of phenylketonuria. The enzyme activity of
phenylalanine hydroxylase is normal. His conditions is caused by a deficiency in the enzyme that
regenerates the cofactor required by the enzyme phenylalanine hydroxylase to make tyrosine.
What is the activity of this defective enzyme?
(A) tyrosine hydroxylase
(B) tyrosinase
(C) Dihydrobiopterin reductase
(D) DOPA decarboxylase
(E) dihydrofolate reductase

46. The pentose phosphate pathway in the erythrocyte is considered to be an important source
of which of the following?
(A) acetyl-SCoA for oxidation in TCA cycle
(B) NADPH for the reduction of oxidized glutathione (GSSG)
(C) Reducing power as NADH to feed the respiratory chain
(D) CO2 for carboxylation of pyruvate
(E) succinyl-SCoA for the synthesis of the Heme group

47. about the urea cycle, which of the following statements is not correct?
(A) a person excreting large amounts of uric acid would have a defective urea cycle enzyme

(B) during the cycle, the immediate precursor of urea is arginine

(C) hyperammonemia type I is caused by a genetic deficiency of one of the urea cycle
enzymes
(D) two of the amino acids, which are formed during the cycle are not present in protein
structure
(E) the urea cycle involves both cytoplasmic and mitochondrial enzymes

48. hemolytic anemia induced by antimalarial drugs such as Pamaquine is associated with
deficiency of
(A) glucokinase
(B) glucose-6-phosphatase
(C) glucose-6-P dehydrogenase
(D) phosphoglucomutase
(E) phosphohexokinase isomerase
49. same as 48
50. the pentose pathway in the erythrocyte is considered to be an important source of which of
the following
(A) Acetyl-CoA for oxidation in TCA cycle
(B) NADPH for the reduction of oxidized glutathione
(C) Reducing power as NADH to feed the respiratory chain
(D) CO2 for carboxylation of pyruvate
(E) None of the above
ITEMS 51-55
Match the following items
(A) Tryptophan
 (B) Glutamic acid
(C) Glutamine
(D) Tyrosine
(E) Serine
51. Melatonin (A)
52. y-aminobutyrate (GABA) (B)
53. Epinephrine (D)
54. Serotinin (A)
55. Purine ring (C)

ITEMS 56-58
A 55-year old man wakes up at 3:330 AM cold and complaining of acute pain in several joints,
mainly his left knee. His right big toe shows inflammation, redness and tenderness. The prevous
night he enjoyed French cuisine including escargots, pate de foie gras, caviar, mousse au
chocolat as dessert, and a bottle of red wine Cabernet-Sauvignon 1973.

56. Base in the clinical picture of this patient, your most likely diagnosis is
(A) Brucellosis
(B) Duchenne-type muscle dystrophy
(C) Lesh-nyhan syndrome
(D) Rheumatoid arthritis
(E) Gout

57. Which one of the following laboratory exams will most likely provide the required
information to present a definitive diagnosis?
(A) Serum rheumatoid factor assay
(B) Radiography of right foot
(C) Blood uric acid levels
(D) Blood glucose levels
(E) Magnetic resonance imaging (MRI) of right foot

58. Colchicine therapy in the treatment of this patient is to inhibit

(A) DNA synthesis
(B) Pyrimidine synthesis
(C) Cyclooxygenase
(D) Phagocytosis of uric acid crystals by macrophages
(E) Adenosine deaminase