Protein chemistry & metabolism

1. a. What is the normal blood urea level and where is it synthesized? (1+1)
b. Describe the steps of urea synthesis with a picture and write briefly about inborn
disorders of urea cycle (5+2+4)
c. Add a note regulation of urea cycle (2) (15 marks)
2. a) Explain the formation of ammonia in our body. (5)
b) Discuss the transport and disposal of ammonia (3+5)
c) Name 2 urea cycle disorders and mention their enzyme defects (2)
3. a. Name the aliphatic amino acids (2)
b. Give an account of the products formed from glycine and their clinical importance
(10)
c. Add a note on Hyperoxalurias (3) (15 marks)
4. A consanguineous couple brought their one year old child with mental retardation
who was hyperactive and agitated, to the children’s OP with complaints of tremors
and fits. There were few hypopigmented patches around the body and also the child
had mousy body odour. Blood chemistry revealed high phenyl alanine levels. Phenyl
acetate, phenyl pyruvate and phenyl lactate were present in the urine in appreciable
amounts.
Lab report:
Serum phenylalanine levels ->300μmol/L (31-75μmol/L),
Urine ferric chloride test- positive (blue green colour)
cyanide nitroprusside test- negative.

a. What is the probable diagnosis and name the enzyme that is defective (1+1)
b. Enumerate the catabolic pathway of the amino acid & discuss the disorders related
to it (4+5)
c. Name the special products formed from tyrosine (2)
d. Give the reasons for (i) hypopigmented patches and (ii) mousy body odour (1+1)
5. a. How is tyrosine synthesized? (2)
b. Name the products formed from tyrosine & explain their synthesis?(1+4).
Enumerate their clinical importance. (2)
c. Add a note on the inborn errors of metabolism in this pathway. (6) (15 marks)
6. 9-year-old girl Radha presented with right-hand dystonia and gait difficulty. She
developed the symptom around the age of 7. When she was 4 years old, she
experienced blurred vision and was operated for lens dislocation 3 years later. Last
year, she had a history of severe low back pain. Earlier she had experienced right
femur fractur. On physical examination, she had fair and wooly hair and mild fixed
oromandibular dystonia presenting as fixed smiling. She was unable to stand
unsupported. While aiding in walking her dystonic gait was revealed. There was a
family history of undiagnosed progressive motor disability in her older brother, which
finally resulted in seizure and death. Her parents had consanguineous marriage.
USG findings: Carotid Doppler sonography demonstrated left carotid narrowing
without evidence of thrombosis
Lab report:
Her blood cell count, liver function test, thyroid function test, calcium, serum
ceruloplasmin, 24-hour urine copper, and serum B12 were within the normal range.
Serum homocysteine= 200 nmol/mL (4-14 μmol/L)
 a) write the probable diagnosis. (1)
b) Name the sulphur containing amino acids? (1)
c) Enumerate pathway of catabolism of methionine (4)
d) Mention 2 transmethylation reactions in which methionine is involved. (2)
e) Explain the disorders related to sulphur containing amino acids in detail (7).

Short answers ( 5 marks questions)

1. What is Transamination? What is its significance? What is the diagnostic use of
Transaminases? Write two Transamination reactions involved in Anaplerosis of TCA
cycle. (1+1+1+2=5 Marks)
2. Explain why ammonia is toxic to the brain? What are the causes of increased
Ammonia in serum? What are the clinical features observed in Hyperammonemia I &
II? (2+1+2=5 Marks)
3. What is the end product of protein metabolism? Explain the reactions involved in
detoxification of ammonia. Add a note on its energetics and its bicyclic integration
with TCA cycle. (1+2+1+1=5 Marks)
4. What is Glutathione? Enumerate its metabolic functions in detail. (2+3=5 Marks)
5. Give an account of the formation of specialized products from glycine and their
clinical importance.
6. "Describe the pathway of Creatinine metabolism.
7. Write any two clinical significance of Creatinine. (3+2)"
8. "Describe about Glucose Alanine pathway and add a note on its clinical significance.
(3+2)"
9. Explain the role of alanine in blood glucose regulation.
10. What is Phenylketonuria? Why there is mousy odour in PKU? What is the reason for
mental retardation and hypopigmentation observed? What are the diagnostic tests
done? What is the treatment involved? (1+1+2+1+1=5 Marks)
11. What is meant by ‘Sparing action of Tyrosine on Phenylalanine? How Phenylalanine
is converted to Tyrosine? Write a brief note on the specialized products formed from
Tyrosine? (1+2+2=5 Marks)
12. "A sample of urine from a child was kept for routine analysis. When exposed to
sunlight for 2 hours the urine color was changed to black. The urine gave positive
result with Benedict’s test. The doctor suggested that it would be an inborn error in
metabolism of aromatic amino acid
Questions
a) Write the probable diagnosis & the enzyme defect? (1)
b) Give an account on the biochemical changes, clinical presentation & lab diagnosis
(2+1+1)"
13. Describe how serotonin is synthesised? Enumerate the functions of serotonin. Add a
note on carcinoid syndrome. (2+2+1= 5 Marks)
14. Explain the different types of Tyrosinemia types I & II in detail
15. What is Maple syrup urine disease? Explain the clinical presentation, lab diagnosis&
treatment of this disorder. (1+1+2+1=5 Marks)
16. "What is Homocystinuria due to? Write about its causes, clinical features and
treatment. (1+4)"
17. What is Garrod's Tetrad? Write in detail about Cystinuria. (2+3)
 18. What is Nitric oxide and name its precursor. Give an account of its functions in our
body. Write 2 therapeutic uses of NO. (1+3+1=5)

Very short answer questions ( 2 marks questions)

1. What is transamination? Give one example of transamination reaction
2. What is transdeamination? Name the amino acid, which cannot undergo
transamination.
3. What is the normal blood urea nitrogen (BUN)level & serum urea level? Name two
conditions where serum urea is increased (1+1M)
4. What are the two transport forms of ammonia in blood? write a brief note on any one
form.
5. What are the amino acids present in glutathione? write any one significance of
glutathione.
6. Write any two clinical significance of nitric oxide.
7. Name the important products formed from arginine.
8. Define biogenic amine. Give two examples
9. What is primary hyperoxaluria due to? Write its clinical features (1+1)
10. Explain the metabolic disorders of glycine in detail.
11. Write a brief note on Albinism? What is the enzyme defect in this disorder?
12. What is Hartnup disease? write the laboratory diagnosis.
13. Write the enzyme deficiency and clinical features of Phenylketonuria.
14. Name two biologically important products formed from tyrosine and mention their
clincial significance.
15. "A patient complains of blackening of urine on exposure to sunlight. The urine gives a
positive ferric chloride test and Benedict’s test. What is the probable diagnosis & the
enzyme deficiency present? What is ochronosis?"
16. What are the components of Garrod's tetrad?
17. What is serotonin? How is it synthesized? Write 2 functions of serotonin?
18. What is “active Methionine”? Give two transmethylation reactions in which it is
used?
19. What is Transmethylation reaction? Give 2 examples of transmethylation reaction.
20. What is folate trap? Write its significance.(1+1)
21. What is cystinuria? write any two clinical features of cystinuria.
22. Give an example of an inhibitory neurotransmitter & its mode of action. How is it
formed from its precursor?
23. Name the polyamines. What are their biochemical functions?
24. What are Polyamines and how it is synthesised? Give its clinical importance (1+1)
25. Give an account of GABA synthesis and write its metabolism (1+1)
26. What is the biologically important compound formed from histidine. Write its clinical
significance.
27. Name the amino acid form which Nitric oxide is formed. Write one physiolgical
action of nitric oxide.
28. Mention the physiological actions of Nitric oxide
29. Write the significance of antihistamines in anaphylaxis
30. Give an account of FIGLU excretion test.