The document describes a biochemistry quiz with multiple choice and case study questions. Some of the case studies presented include a woman diagnosed with cholera after experiencing watery diarrhea and dehydration, a boy diagnosed with Hurler disease showing signs of developmental delay and joint issues, and an infant showing fussiness after being switched to solid foods who may have a enzyme defect causing hereditary fructose intolerance. The quiz questions cover topics like the receptor for cholera toxin, disorders of glycosaminoglycan breakdown, and specific enzyme deficiencies related to the case studies.

1. Biochemistry Quiz
Department of Biochemistry

2. Round -1
Case studies

3. Team A

4. Team A
oA 21- year old female working in a rural school suddenly began to
pass profuse watery stools almost continuously.
oShe soon started to vomit, her general condition declined abruptly,
and she was rushed to the general hospital.
oOn admission she was cyanotic, skin turgor was poor, blood pressure
was 70/50 mm Hg and her pulse was rapid and weak.
oThe doctor on duty diagnosed cholera .

5. Team A
• Which type of lipid is a receptor for cholera toxin in the intestine?
A. Ganglioside
B. Cerebroside
C. Phospholipid
D. Lipoprotein
E. Cholesterol

6. Team A
?

7. Correct Answer
Ganglioside
GM1-

8. • Cholera is a toxin-mediated disease.
• Its characteristic watery diarrhea is
due to the action of cholera toxin, a
potent protein elaborated by the
organism after it colonizes the small
intestine.
• The cholera toxin binds to GM1
ganglioside, a glycolipid on the
surface of epithelial cells that serves
as the toxin receptor.

9. Team B

10. Team B
A 6-year-old boy is seen by a pediatrician because his parents are
concerned about his aggressive behavior, hyperactivity, and a loss of
language skills.
He also has recently become increasingly unsteady on his feet and has
experienced a recent seizure.
Slight facial feature coarsening is noted.
He has been diagnosed with Hurler disease.

11. Team B
• In which of the following processes is this child most likely to have a
disorder?
A. Degradation of Cerebrosides
B. Impaired glycolysis
C. Galactose metabolism
D. Degradation of glycosaminoglycans
E. Cholesterol metabolism

12. Team B
?

13. Correct Answer
• Degradation of Glycosaminoglycans

14. Mucopolysaccharidoses
• Glycosaminoglycans are degraded by lysosomal hydrolases.
• A deficiency of one of the hydrolases results in
Mucopolysaccharidoses.
• These are hereditary disorders in which the glycosaminoglycans
accumulate in tissues, causing symptoms such as skeletal and extra
cellular matrix deformities, and mental retardation.

15. Team C

16. Team C
• A 3-month-old girl is brought to the pediatrician due to fussiness and
lethargy.
• According to the parents, the baby was just fine until the mother
needed to return to work, and the baby was being switched from
breast milk to baby foods, formula, and fruit juices.
• At that time, the child cried while feeding, sometimes vomited, and
had been lethargic.
• The baby’s appetite seemed to have worsened.
• The parents thought that if only formula was used, the baby was
better.

17. Team C
• Which possible enzyme defect might lead to this case presentation?
A. Galactokinase
B. Fructokinase
C. Aldolase
D. Hexokinase
E. Glucokinase

18. Team C
?

19. Correct answer
• Aldolase

20. ‘Hereditary fructose Intolerance’
• The child is most probably suffering from ‘Hereditary fructose
Intolerance’.
• The onset of symptoms after ingestion of fructose or fructose
containing diet (fruit juices in the given case) is a sign of hereditary
fructose Intolerance.
• Hereditary fructose intolerance is caused by mutation in the gene
encoding Aldolase B enzyme.
• These patients are healthy and asymptomatic until fructose or
sucrose (table sugar) is ingested (usually from fruit, sweetened cereal,
or sucrose-containing formula).

21. Round 2
Name the disease

22. Team A

23. Team A
• Poor feeding
• Jaundice
• Enlarged liver
• Premature cataract

25. Answer
• Galactosemia

26. Team B

27. Team B
• Protruding jaw,
• enlarged nose
• enlargement of the hands, feet and skull,
• Insulin resistance

29. Answer
• Acromegaly

30. Team C

31. Team C
• Fragile bones
• Easy fractures
• Bone pains
• Hepatosplenomegaly
• Anemia

33. Answer
• Gaucher disease

34. Round 3
Spot diagnosis

35. Team A

36. ▪ The patient has presented
with :
a)Weight loss
b) Fatigue
c) Change in hair texture
d) Difficulty in falling asleep
Team A

38. Answer
The patient is suffering from Grave’s disease.
It’s an autoimmune disease causing Thyrotoxicosis.

39. Team B

40. Team B
The child has presented with
progressive mental retardation and
blindness.
Ophthalmological examination
reveals –Pale macula with cherry red
spot

42. Answer
• Tay-Sach ’s disease
• Deficiency of Hexosaminidase A enzyme

43. Team C

44. Team C
The patient has developed
Jaundice after treatment with
Primaquine-an antimalarial drug.

46. Answer
• It’s a case of Glucose-6-P dehydrogenase deficiency.
• The patients deficient in this enzyme present with hemolytic anemia,
jaundice, or hematuria on exposure to specific analgesics, antibiotics
or antimalarials(3As).

47. Round 4
Laboratory interpretations

48. Team A

49. Team A
Blood Chemistry :
• Plasma sodium level -149 mEq/L
• Plasma osmolarity -308 mOsm/L, and
• Fasting plasma glucose -85 mg/dl.
Urine Analysis :
• Urine osmolarity 200 mOsm/L.
• Glucose- Negative

51. Answer
• Diabetes Insipidus

52. Team B

53. Team B
A 25- year-old female reports to medical OPD. Her lab report shows :
▪ Fasting Blood glucose– 80 mg/dL
▪ Urinary Glucose– Negative
▪ Paper chromatography shows excess of Urinary Xylulose
▪ Urinary Bial’s test-Positive

55. Answer
• Essential Pentosuria

56. Team C

57. Team C
• The Laboratory investigation report of a 23-year-old male shows the
following:
• Fasting blood glucose- 55 mg/dl (low)
• Fasting ketone body level-Low
• Muscle biopsy reveals- Lipid vacuoles

59. Team C
• Carnitine deficiency

60. Round 5
One word answer

61. Team A

62. Team A
• Deficiency of Anti diuretic hormone (ADH)

64. Answer
• Diabetes Insipidus

65. Team B

66. Team B
• Excess secretion of Growth hormone

68. Answer
• Acromegaly

69. Team C

70. Team C
• Deficiency of Galactose-1-P Uridyl transferase

72. Answer
• Classical Galactosemia

73. Round 6
Choose the incorrect statement

74. Team A

75. Team A
• Hypothyroidism is caused due to:
• After subtotal Thyroidectomy
• Postpartum thyroiditis
• Excess release of TSH
• Diseases of thyroid itself

77. Answer
Excess release of TSH

78. Team B

79. Team B
• Hypothyroidism is manifested as:
• Heat intolerance
• Weight gain
• Brittle hair
• Decrease sweating

81. Answer
• Heat Intolerance

82. Team C

83. Team C
• Grave’s disease is manifested as:
• Unexplained weight loss
• Exophthalmos
• Cold intolerance
• Diffuse alopecia

85. Answer
• Cold intolerance

86. Thank you