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
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.
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
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.
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
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).
40. Team B
The child has presented with
progressive mental retardation and
blindness.
Ophthalmological examination
reveals –Pale macula with cherry red
spot
44. Team C
The patient has developed
Jaundice after treatment with
Primaquine-an antimalarial drug.
45.
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).
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
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
75. Team A
• Hypothyroidism is caused due to:
• After subtotal Thyroidectomy
• Postpartum thyroiditis
• Excess release of TSH
• Diseases of thyroid itself