Summary of Assignment

1. A 25 year old woman complains of severe pain in abdomen, photosensitivity, constipation, abnormal behavior and seizures. On examination Faster heart rate and higher blood pressure. Biochemical investigations showed high porphobilinogen (PBG).

a. What is the probable diagnosis?

b. Why did the patient have these symptoms?

c. What are the biochemical investigations required?

2. Explain why von-gierke’s disease presents with hyperuricemia.

3. What is lactic acidosis? Write a note on Cori’s Cycle.

4. A 36 Years old woman was brought to emergency room complaining of dizziness. She had missed her dinner and breakfast. She had also started following a rigorous exercise regime to lose weight. Plasma glucose = 43 mg/dL.

a. Give the probable Diagnosis

b. What measures must be taken for managing the condition?

c. Mention two other causes for the above condition?

d. What is the normal fasting plasma glucose concentration?

e. What advice should be given to the patient?

5. TCA is an amphibolic pathway. Giving examples defend how this statement is true.

6. Diet prescription for Diabetes mellitus and Atherosclerosis.

7. Describe the products of HMP shunt pathways and its significance.

8. Mucopolysachharides

9. Dietary fibers and their clinical significance

10. What are Glycosaminoglycans, Give their Functions and Disorders

11. Describe Active Form, RDA, Biochemical Functions and Deficiency Manifestations of Pyridoxine

12. Mention Five markers in cardiac diseases and their patterns in myocardial infarction

13. Define Electrophoresis its Types , Principle and Clinical Applications

14. Thalassemia :- biochemical defect, clinical features, biochemical tests

15. Describe doctor Patient relationship

16. Classify the Immunoglobulins. Give Structure of immunoglobulins. Add Note On Clinical

Applications of immunoglobulins

17. Explain in detail about the Role of the Kidney in Acid–acid-base balance

18. CSF in health and diseases

19. Discuss classification and etiology of fatty liver and add a note on Lipotropic factor

20. Mention any five Diagnostic and therapeutic uses of enzymes

21.Describe Fatty liver with respect to causes and biochemical basis.

22.What are tumor markers and give 5 examples in diagnosis of different diseases.

23.Enumerate the sources of Oxidative radicals. Describe the biochemical actions of

four antioxidants.

24. Role of CSF analysis in various diseases.

25.Explain Mucopolysaccharides types function and disorders

26.Describe Kwasiorkar and nutritional marasmus

27.Describe Collagen-types, structure, functions and names of two genetic diseases.

28.Explain Immunoglobulins structure, function and applications

29.Describe Inhibitor and uncouplers of ETC

30. ADA criteria for Diabetes mellitus and Gestational Diabetes Mellitus

31. Describe Vitamin B12 deficiency and folate trap. Add a note on homocysteinemia.

32. Molecular, clinical, and diagnostic differences between sickle cell anemia and thalassemia

33. Enumerate various Molecular diagnostic Techniques and its applications

34. Hyperammonemia causes, biochemical basis and lab diagnosis

35. Neonatal and congenital hyperbilirubinemia.

36. Dehydration; Types and biochemical changes in Dehydration

37.Hemoglobin Catabolism and Diagnosis of various types of jaundice

38. Biochemical functions of Iron with its associated clinical disorders.

39. Describe metabolism of alcohol with Biochemical changes and effects of chronic alcoholism.

40. Thyroid disorders and function tests

41.Explain any 5 tumor markers and conditions associated with it.

42.Define & Classify Lipids based on Functions. Note on lipidosis

43.Immunoglobulin :- Types, Functions and Disorders

44.Principle and Clinical applications of Chromatography. Add a note on HPLC

45.Define Oxidative phosphorylation. Enumerate inhibitors & Uncouplers of Oxidative phosphorylation.

Add note on Chemiosmotic Theory

46.Types of Enzyme Inhibitions with Suitable Examples? add a note on therapeutic uses of enzymes

47.Structure and Functions of Cholesterol

48.Enumerate plasma proteins and Write a note on the role of protein in water regulation / balance

49.Therapeutic and diagnostic uses of Enzymes

50.Enumerate Biologically Important Polypeptides. Explain them in relation to its clinical importance in practice.

51.Define clearance test and discuss various clearance tests and their clinical significance

52.Define xenobiotic metabolism. Explain Phase I reactions.

Long Answer Question (LAQ)

1. Discuss the synthesis and breakdown of glycogen. Write a note on its regulation. Add a note on glycogen storage disorders

2. Discuss how blood glucose is regulated.

3. Discuss the regulatory role of PFK1, glucokinase and glycogen phosphorylase in carbohydrate metabolism

4. Describe the process of gluconeogenesis

5.Describe the Electron Transport chain under the following headings,

i. Definition
ii. StructuralOrganisation of Components of Complexes with Diagram,
iii. Reactions of Each Complex With Diagram.
iv. Inhibitors of Each complex

6. Describe Enzymes under following headings

i. Active site of the Enzyme,
ii. Mechanism of enzyme action
iii. Diagnostic uses of enzymes

7. Describe Diabetes Mellitus under the headings -

i. Definition & Types
ii. Biochemical basis for clinical features & complications
iii. ADA Criteria for Laboratory investigations for diagnosis and long-term case management of Diabetes Mellitus

8. Describe cholesterol under following headings

i. Regulation of rate-limiting step of cholesterol synthesis & its significance
ii. Specialized products synthesized from cholesterol & their Functions.
iii. Add a note on disorders associated with those products.

9. Write Active forms, Sources, RDA, Mention FOUR Biochemical Functions & Deficiency manifestations of Vitamin A. Explain the process of Walds Visual Cycle in Vision

10.Describe lipoproteins under the following headings

i. Explain HDL transport mechanism and why it is a good Cholesterol
ii. Explain LDL transport mechanism and why it is a bad Cholesterol
iii. Hyperlipoproteinemias classification & clinical significance

11.Explain the gluconeogenesis in details under following headings -

i. Metabolic pathway with all enzymes
ii. Regulation in fasting state of metabolism

12. Describe the metabolism of lipoproteins with respect to

i. formation & transport
ii. Hyper lipoproteinemias
iii. Relations of LDL with atherosclerosis

13. i. Describe the process of Translation in eukaryotes

ii. Mention any five post translational modifications

iii. Inhibitors of translation

14. i. Explain the role of blood buffers in acid-base balance

ii. Role of kidney in maintaining pH

iii. Write a note on Acidosis and Alkalosis

Case summary

1. A 30-year-old working woman had been in the habit of either not eating or eating freeze-stored food for

over a year. She developed the symptoms of spongy, sore & bleeding gums. She used to have frequent

common colds and respiratory tract infections. Also observed delayed wound healing and petechial

hemorrhage & swollen joints.

i. What is the probable diagnosis?
ii. What are the sources of the Deficiency biomolecule?
iii. What is the biochemical basis of disease?
iv. What is the cause of anemia?

2. An 8-year-old girl from an endemic malaria area who had splenomegaly was investigated for routine

hematology, which revealed low hemoglobin of 7 gm%. Peripheral smear revealed - crescent-shaped

RBCs. She had no history of malaria attacks.

i. What is the probable diagnosis?
ii. What is the Biochemical basis of diseases?
iii. Name the biochemical investigations that can be done to confirm the diagnosis
iv. Reason out why these patients show resistance to malaria.

3. A 2-year-old boy presents with developmental delay, aggressive behavior, and frequent episodes of

self-mutilation, including biting of lips and fingers. The mother reports that the child's diaper often

contains orange sand-like crystals. Laboratory tests reveal markedly elevated serum uric acid levels.

Based on this clinical case, answer the following:

i. What is the most probable diagnosis?
ii. Name the defective enzyme and the gene involved.
iii. Describe the metabolic pathway affected and the reason for hyperuricemia.
iv. Mention one specific clinical feature that distinguishes this condition from other hyperuricemic disorders.

4. A 4 years old boy was brought by parents to the OPD with complaints of severe fatigue, shortness of

breath after he had treatment for malaria last week. For 2-3 days, he is passing dark colored urine.

Pediatrician noted mild jaundice and an increased heart rate. The paediatrician suspects a disease for

which he asked for similar complaints in parents or in close relatives.

i. What might be the diagnosis?
ii. Which blood tests would be prescribed & why?
iii. Explain the biochemical basis for the disease?

5. A 55 years old male known case of Diabetes Mellitus on insulin was admitted to the ICU in

semiconscious state. Examination revealed Kussmaul’s breathing with a fruity smell. On

investigations, Random blood glucose was 700mg/dl. - Urine: ketones ++, Blood pH 7.1,

HCO3 = 19 mmol/L, pCO2=36 mmHg

i. What is the probable diagnosis?
ii. What are the reasons for each abnormal lab report?
iii. What is the biochemical basis of this condition?

6. After 6 hours of birth a premature infant was found to have cyanosis, grunting, poor feeding,

tachypnea (>60 breaths/min) and intercostal retractions. On bronchography airless, collapsed alveoli

were observed against air-filled bronchi along with decreased lung volumes.

i. What is the probable diagnosis?
ii. What is the biochemical basis of respiratory distress?
iii. Which biochemical test is used for diagnosis of this disease?
iv. What is the treatment?

7. A 55-year-old male known case of Diabetes Mellitus on insulin was admitted to the

ICU in semi unconscious state. Examination revealed Kussmaul’s breathing with a

fruity smell. On investigations, Random blood glucose was 700mg/dl.-Urine: ketones++,

i. What is the probable diagnosis?
ii. What are the reasons for the abnormal lab report?
iii. What is the biochemical basis of this condition?

8. The 7-year-old boy complains of pain abdomen and loose stools and has no fever.

On further history taking symptoms usually follow after taking milk. On examination,

no significant abnormality was detected.

i. What is the probable diagnosis?
ii. What is the biochemical basis of these symptoms?
iii. What are the tests to be done on this patient?
iv. what is the treatment?

9.A 20-day-old infant was brought to the OPD with complaints of frequent convulsions

and vomiting. On further evaluation, it was noted that the infants urine smelled like

burnt sugar. His urinary Rothera test was positive.

i. What is the probable diagnosis?
ii. Write the biochemical basis of this condition
iii. How to manage this case?

10. A 45-year-old woman on steroids presents to the clinic with a history of progressive weight

gain, specifically in her face and trunk, over this year. She also reports easy bruising,

developing purple stretch marks on her abdomen and thighs. She is experiencing muscle

weakness and increased fatigue. She also mentions experiencing mood swings, difficulty

sleeping and irregular menstrual cycles.

i.What is the diagnosis of this condition?
ii.Explain the biochemical basis for the symptoms.
iii.Which biochemical tests can be prescribed to support and confirm diagnosis of the disease?

Reasoning

1. Ethanol used as antidote in methanol poisoning

2. Glucose 6 Phosphatase deficiency associated with hypoglycaemia and hepatomegaly

3. Aspirin reduces risk of thrombotic event

4. HbA1C is reliable indicator of long term treating glycemic control

5. RBCs rely on glycolysis for energy

6. Cataract in Galactosemia

7. Reason for Menkes and Wilson’s disorder

8. Reason for Xeroderma pigmentosum

9. Mention the drug used in treatment of gout and its biochemical basis of its mechanism of action

10. Steatorrhea causes fat soluble vitamin deficiency.

11. Reasons to choose between mGFR and eGFR.

12. use of chromatography for diagnosis of Inborn errors of metabolism causing aminoaciduria

AETCOM

1. Enumerate and describe professional qualities and roles of a physician.

2. Describe and discuss the role of a physician in health care system.

Click to enter this course