NIMS UNIVERSITY

NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR

DEPARTMENT OF BIOCHEMISTRY

CASE BASED SCENARIOS

1) A 60 years age obese male had severe chest pain in the morning after doing exercise. He
describes the pain as retrosternal radiating to left arm. He complaints of dyspnea and
intermittent palpitations. On investigation serum troponin I was elevated. Based on the
history answer the following:
a) What is the diagnosis?
b) What other investigations are to be performed in this patient?
c) What is the role of isoenzymes in the diagnosis of this disease?
d) What is flipped pattern?
e) What are the risk factors for this condition?

2) A 50 yrs. old patient presented with a H/O loss of weight, polyuria, polyphagia and
polydipsia. Blood & urine analysis revealed the following data: FBS 180 mg/dL, PPBS 240
mg/dL, HbA1c 7.5% and urine sugar +++ and rothers test for ketone bodies: negative.
Answer the following questions
a) What is the diagnosis?
b) Write the WHO criteria for the diagnosis of this condition?
c) What is glycated hemoglobin. Mention its significance.
d) Write the mechanism of blood glucose regulation.

3) A male boy aged 10 years was admitted to the hospital with yellowish discoloration of skin
and conjunctiva: his laboratory data reveals elevated total bilirubin, conjugated bilirubin
and urine analysis shows absence of bile salts and bile pigments and presence of
urobilinogen (++++):
a) What is the probable diagnosis?
b) Classify types of jaundice?
c) Write the causes of hemolytic jaundice?
d) Write the steps of heme degradation?

4) A 45-year-old male was admitted to the hospital with history of excruciating pain in the
joints including big toe and his laboratory data reveals elevated uric acid levels and
microscopic examination of synovial fluid shows urate crystals:
a) What is the probable diagnosis?
b) What are the causes?
c) Name two drugs to lower uric acid concentration?
d) Describe the steps of degradation of purines?

5) A three-week-old infant with refusal to feeds lethargy excessive cry and irritability, tested
positive (+ve) for FeCl3 test on genetic screening for inborn errors of metabolism.
Laboratory findings:
Serum phenylalanine : 30 mg/dl
Serum tyrosine : 2 mg/dl
Urine (FeCl3 test) : + ve for phenyl ketones
a) What is the probable diagnosis?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
b) What enzymatic reactions are defective in this patient?
c) Write the steps of catabolism of phenylalanine and tyrosine?
d) Name the compounds synthesized from tyrosine?

6) A 38-year-old vegetarian female presented to her doctor with fatigue and tingling in her
extremities. The symptoms were gradually getting worse over the last year. On
examination, she was pale with tachycardia. Her tongue was beefy red. Neurological
examination revealed numbness in all extremities with decreased vibration senses.
Haematological examination showed macrocytic anaemia and bone marrow showed
presence of megaloblasts.
a) What is the most likely diagnosis?
b) Explain the sources, RDA and functions of vitamin B12?
c) Mention the coenzymes of vitamin B12?
d) How to assess vitamin B12 deficiency?

7) A 5-year-old boy suffered from pain in his 1st MCP joint. He had a self-mutilating behaviour
and mental retardation. His serum uric acid level was 11 mg/dl.
a) What is the probable diagnosis?
b) What is the pattern of inheritance?
c) Which enzyme is defective in this disease?
d) Explain the Biochemical basis for the symptoms?

8) A one-year old child with a history of jaundice was brought to hospital. Child also had pain
and swelling of hand and feet. Peripheral smear showed sickle shaped RBC’s
a) What is the probable diagnosis?
b) Mention the defect in this disease.
c) What is the biochemical basis for the symptoms in this patient?
d) What the role of Hb electrophoresis in the diagnosis of this condition?

9) A male baby aged 7 days old referred from a general practitioner presenting with vomiting,
jaundice & failure to thrive admitted to pediatric ward of medical college. O/E – Bilateral
cataract:+, Hepatomegaly:+.
Laboratory findings: are as follows
Blood galactose : ↑
Blood Glucose : Normal
Bilirubin : 14 mg/dl
Urine galactose : + ve
a) Write the probable diagnosis?
b) Mention the defective enzyme?
c) Explain the biochemical basis of cataract development?
d) How do you treat this condition?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
10) A mother admitted her child to hospital with c/o the diapers used for the child stained
black. Blackening of urine was observed on exposure.
Laboratory findings:
• Benedict’s test with urine : + ve
• Glucose oxidase test : - ve
• FeCl3 test : + ve
• Silver nitrate test with urine : Black color develops immediately.
a) What is the probable diagnosis?
b) What is the biochemical defect?
c) What are the complications of this disorder?
d) Explain the rationale of biochemical tests in the diagnosis of this condition?

11) A patient aged 45 yrs. Admitted to medical emergency ward in an unconscious state. He
was breathing deeply and rapidly O/E, smell of acetone present in the breath, moderately
dehydrated, pulse rate is increased & BP 100/60 mm of Hg.
The lab data reveals:
• Random Blood Glucose : 550.0 mg/dl.
• Serum Urea : 80.0 mg/dl.
• Serum Creatinine : 2.4 mg/dl.
• Serum Cholesterol : 300.0 mg/dl
• pH : 7.25
• pCO2 : 30 mm of Hg.
• HCO 3 -
: 18 mEq/l.
Urine analysis:
• Urine sugar : 2%
• Rothera’s test : positive

a) What is the probable diagnosis?

b) Discuss the biochemical investigations done to diagnosis this condition?
c) Name ketone bodies? Write the steps involved in the synthesis of ketone bodies?
d) How ketone bodies are utilized?

12) A 15 year old boy was slim and fit when he collapsed after completing a cross – country
run at his school in morning. He was rushed to the hospital emergency ward and
pronounced dead in the afternoon. P/H - cricket player Family H/O: father has
Hypercholesterolemia. On autopsy, patient had lumps over the knuckles, Xanthelasma
present and coronary arteries were completely blocked leaving a pin hole opening. Height
and Weight are normal
Lab data as follows:
• Total cholesterol : 290 mg/dl
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
• Repeat T. Cholesterol : 296 mg/dl
• Triglycerides : 108 mg/dl
• HDL Cholesterol : 55 mg/dl
• LDL Cholesterol : 209 mg/dl

a) What is the probable diagnosis?

b) What is the biochemical defect?
c) What are the risk factors for Atherosclerotic heart disease?
d) Why should we do screening of children with family H/O Hypercholesterolemia?
e) What is the acceptable level of plasma total cholesterol?

13) A pregnant woman aged 29 yrs (primi) presented with increased hunger, generalized
weakness. No past H/O DM (Diabetes Mellitus). Advised GTT (Glucose Tolerance Test).
GTT report shows:
Blood Urine
FBS 98 mg/dl Urine Sugar Nil
1 hr 190 mg/dl Urine Sugar 0.5 %
2 hrs 150 mg/dl Urine Sugar Nil
a) What is the diagnosis?
b) What are the diagnostic criteria for Gestational DM?
c) Describe the indications for GTT?
d) How do you conduct GTT in pregnant women?

14) A 15 yrs old boy student studying in boarding school admitted to hospital with a history of
vomiting, nausea, loss of appetite, abdominal pain since 15 days. Also gives history of
passing dark yellow colored urine. O/E, yellowish coloration of skin and conjunctiva
present. Liver is just palpable.
Blood and Urine analysis revealed the following data:
• Serum bilirubin : 7.5 mg/dl
• Serum direct bilirubin (Conjugated) : 4.5 mg/dl
• Serum indirect bilirubin (Unconjugated) : 3.0 mg/dl
• AST(SGOT) : 600 U/L
• ALT(SGPT) : 700 U/L
• Serum Alkaline phosphatase : 120.0 U/L
• Serum HbSAg(Hepatitis B surface antigen : “-Ve”
Urine analysis:
• Bile pigments : “ +Ve”
• Bile Salt : “ +Ve”
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
• Urobilinogen : Present
• Fecal Stercobilinogen : “ +Ve”
a) What is the probable diagnosis?
b) Write the findings in the support of your diagnosis?
c) Discuss the metabolism of bilirubin? Mention its normal ranges?
d) How bilirubin is detoxified?

15) A patient aged 5 yrs admitted to pediatric ward with the H/O general weakness, retarded
growth, diarrhea, loss of appetite, swelling of face and lower limbs, distension of abdomen,
fever, and cough since 1 month, O/E pallor, muscle wasting, generalized edema present.
Ascites, angular stomatitis and cheilosis also were present.
The blood results:
• Hb : 7.0 gm/dl
• Serum Total Proteins : 5.0 gm/dl
• Serum Albumin : 2.0 gm/dl
• Serum Globulins : 3.0 gm/dl
• Random Blood Glucose : 50.0 mg/dl
• Blood urea : 10.0 mg/dl
• Serum Creatinine : 0.4 mg/dl
a) What is the probable diagnosis?
b) Define Protein energy malnutrition?
c) How do you differentiate kwashiorkor and marasmus?
d) Balanced diet?

16) A 40year old married man was admitted to the hospital with the complains of recurrent
attacks of abdominal pain, headache, palpitation and unpredictable behavior. His wife
recalled that his illness got worsened whenever he takes alcohol.
Urine for Watson Schwartz for porphobilinogen +Ve
a) What is your probable diagnosis?
b) Name the defective enzyme
c) Explain the biochemical basis of the disease process
d) How do you diagnose this condition?

17) A two month old baby girl was brought by her parents for consultation. She had pale skin,
blonde hair and pink iris. The baby girl was otherwise healthy, feeding well but was unable
to fix the gaze. Parents revealed that their first two children, a boy and girl, had complete
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
albinism, but the parents themselves were normal. The eye examination of the child showed
absence of pigment in the retina.

a) What is the probable diagnosis?

b) What is the biochemical abnormality of this disease?
c) Name the compounds synthesized from tyrosine?
d) Write the steps of the pathway involved in the synthesis of melanin?

18) A child was admitted with a high fever and rigidity of neck, on examination of CSF showed
the following results.
Laboratory investigation reveals:
• Color : Turbid
• Cells : Plenty of Neutrophils
• Proteins : 130 mg % (NR is 15 – 45 mg %)
• Sugar : 25 mg % (NR is 40 – 70 mg %)
a) Interpret the laboratory report & Write your probable diagnosis
b) How will you differentiate bacterial Meningitis, Viral Meningitis and tubercular
Meningitis?
c) How do you collect CSF for biochemical analysis?

19) A 40 year old male came to the hospital with complains of muscle weakness difficulty to
arise from squatting position and numbness in the legs. On examination deep tendon
reflexes were diminished, personal history he is chronic alcoholic and takes unpolished rice
in diet. Laboratory investigations showed decreased RBC transketolase activity.
a) What is the probable diagnosis?
b) What is the active form?
c) Write the RDA and discuss the functions of thiamine?
d) What is wernicke’s- korsakoff syndrome?

20) 4 years old boy had sudden fits and admitted to the hospital. Past medical history – normal
except for mild fits. O/E - Mild weakness of muscles of the left side of face, left arm and
leg.Tentative diagnosis – cerebrovascular accident involving (Right) cerebral hemisphere
downward dislocation of the lenses of both eyes. Neurologist noted a waddling gait which
mother said began few years earlier and was progressive with time. CT- A small infarction
in the (Right) cerebral hemisphere (a damaged area caused by temporary or permanent loss
of blood flow). X-ray - show the signs of Osteoporosis
Laboratory findings:
• Methionine : 1000 μmol/l (Normal range -< 30 μmol/l)
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
• Homocysteine : 150 μmol/l (Normal range - 5-15 μmol/l)
• Cysteine in blood : Low
• S. Vit B12 & Folate level : Normal
• 24 hr urine Homocystine : Increased
a) What is the probable diagnosis?
b) What is the biochemical defect?
c) What are the causes of Homocystinuria?
d) Suggest test for the diagnosis of Cystathionine β – synthase in this patient.
e) Explain why B6 is useful in the treatment of some patients with Homocystinuria

21) A 1 week old infant presented with vomiting, convulsions, dehydration. His mother also
complained that the baby was passing urine which smelled like burnt sugar. Dinitrophenyl
hydrazine (DNPH) test positive forming thick yellow precipitate. Rothera’s test was found
to be positive. The plasma and urine concentrations of branched chain amino acids were
found to be very high.
Laboratory findings:
Blood pH : 7.33
Bicarbonate : 12 mmol/L
Urine ketone bodies: +Ve
a) What is the probable diagnosis?
b) Which enzyme is defective in this condition?
c) Name branched chain amino acids?
d) What investigations are done to diagnose this condition?

22) A 65 year old woman was brought to the hospital with severe abdominal pain. O/E the
abdomen was distended and notably both the femoral pulses were distended. The patient
was in a state of shock. A laparotomy was performed and the condition was identified as
ruptured abdominal aortic aneurism.
Lab Data:
• pH : 7.0
• pCO2 : 25 mm of Hg
• pO2 : 90 mm of Hg
• HCO3- : 8 mEq/L.
• Anion gap : 24 mEq/L
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
a) What is the probable diagnosis?

b) Write the findings in support of your diagnosis?

c) What are the causes of NAGMA and HAGMA?
d) How do you collect the blood sample for arterial blood gas analysis?

23) A 47 year old male admitted to the hospital with H/O persisting vomiting since one month.
He was severely dehydrated and had shallow respiration
Lab Data:
• pH : 7.55
• pCO2 : 48 mm of Hg
• HCO3- : 35 meq/L.

a) What is the probable diagnosis?

b) Write the findings in support of your diagnosis?
c) What are the causes of this condition?
d) How do you differentiate metabolic acidosis and metabolic alkalosis?

24) A 7 year old child brought to the hospital with complains of diarrhea, loss of memory, and
necklace shape rash around the neck. In dietary history they took predominantly jowar and
maize in diet
a) Name the disease?
b) Name the two important dietary sources?
c) Name the active form of above deficient biomolecule?
d) Give the involvement of active form in biochemical reactions?

25) 10 year old child brought to hospital with complains of bleeding gums delayed wound
healing and red hemorrhagic spots all over the body.
a) What is the probable diagnosis?
b) Which factor deficient in the diet?
c) Name rich source of this deficiency?
d) Give any four functions of this deficient factor?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY

26) A two year old child visited ophthalmology OPD with C/O poor vision in night, ulceration
and watering from the eye, dry and rough skin and stunted growth. Mother of the child
reported the child was finding it difficult to locate things in the dim light and during night
time. O/E, Bitot’s spots present in the conjunctiva, cornea is opaque and perforated,
Follicular hyperkeratosis also present. Dark adaptation time is increased.
The blood analysis shows:
• Serum Retinol Binding Protein : 1.5 mg/dl ( 3.0 – 6.0 mg/dl)
• Serum Vitamin-A : 10 μg/d (30.0 – 65.0 μg/dl)

a) Write your probable diagnosis?

b) Describe the sources, RDA and functions of Vitamin A?
c) How do you diagnose vitamin A deficiency?
d) What are deficiency manifestations of Vitamin A?

27) A three months old home delivered male baby was brought to the pediatric OPD. O/E –
doll like face with fat cheeks, thin extremities, protruded abdomen. Systemic examination:
Hepatomegaly + Histopathological examination of liver biopsy: Distended hepatocytes
with glycogen & lipid vacuoles.
Blood examination:
• FBS : 35 mg/dl
• ALT : 150 U/L
• AST : 30 U/L
• ALP : 40 U/L
• Uric acid : 9.5 mg/dl
• Triglycerides : 300 mg/dl
• Cholesterol : 350 mg/dl
• Lactate : 95 mg/dl
Urine analysis:
• For glucose : Negative

a) What is the clinical diagnosis?

b) Explain the biochemical features of this condition?
c) Describe the regulation of glycogen metabolism?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY

28) A 15 year old male is admitted with mild jaundice, neurological features like involuntary
movements, easy forgettability, tremors suggestive of damage to basal ganglia, behavioral
changes, Kayser-Fleischer ring in cornea and sunflower cataracts
Lab data:
• Serum ceruloplasmin (Bound copper) : 10 mg/dl (Normal Range: 25-50 mg/dl)
• Serum total copper : 25 µg/dl (Normal Range: 70-140 µg/dl)
• Serum ceruloplasmin free copper : High
(Free copper = total copper – ceruloplasmin)
• Urine copper : High
a) What is the clinical diagnosis?
b) What is the defect in this condition?
c) Write the biochemical basis of manifestations of this condition?
d) Write the biochemical functions of copper?

29) An alcoholic presented to OPD with acute abdominal pain. His serum amylase activity
was found to be 450 U/l (Reference range: 50-112 U/L) & serum calcium is 8.0 mg/dl
a) What is the most probable diagnosis? Which other biochemical tests will support
your diagnosis?
b) What is the cause for hypocalcaemia in this case?
c) Name the important cause of this condition.
d) What is fatty liver? Mention any four causes?
e) Write any two lipotropic factors useful in the treatment of fatty liver?

30) 12 yrs old boy presented in the medical OPD with swelling of the neck, bulging of eye
balls, loss of weight, excessive sweating, nervousness and intolerance to heat. O/E,
sweating present. Patient is nervous and emotionally labile, pulse rate 140/min, tachycardia
present. O/E Skin is warm; Tremors present, Deep Tendon Reflexes are exaggerated.
Enlargement of thyroid gland present
Laboratory data reveals:
• Random Blood Glucose : 192.0 mg/dl\
• Serum T3 : 3.4 ng/ml
• Serum T4 : 22.0 μg/dl
• Serum TSH : 0.3 mIU/ml

a) What is the probable diagnosis?

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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
b) Comment on the laboratory report?
c) Write the normal ranges for serum T3, T4 & TSH?
d) Write the functions of thyroid hormones?

31) 40 yrs old patient admitted to hospital with a H/O weakness, constipation, weight gain and
intolerance to cold. O/E cold extremities, coarse, lusterless hair & pulse rate is 60/min.
Bradycardia present. Deep tendon reflexes are decreased and there is a slight swelling of
thyroid gland.
The blood analysis shows:
• Random Blood Glucose : 90.0 mg/dl
• Serum Cholesterol : 410.0 mg/dl
• Serum T3 : 0.3 ng/ml
• Serum T4 : 1.9 μg/dl
• Serum TSH : 30.0 mIU/ml
a) What is the probable diagnosis?
b) Comment on the laboratory report in the support of diagnosis?
c) Why serum cholesterol levels are elevated in this condition?
d) Write the functions of thyroid hormones?

32) A 40 yrs middle aged old woman attended medical OPD with a H/O generalized weakness,
lethargy, giddiness and loss of weight and appetite with repeated infection. O/E, pallor ++,
generalized edema, koilonychia, sore tongue, angular stomatitis.
The blood analysis shows:
• Hb : 8.0 gm/dl
• Serum Total Proteins : 6.8 gm/dl
• Serum Albumin : 3.0 gm/dl
• Serum Globulins : 3.8 gm/dl
• Random Blood Glucose : 96.0 mg/dl
• Blood Urea : 72.0 mg/dl
• Serum Creatinine : 2.0 mg/dl
• Serum Ferritin : 6.8 ng /ml
• Serum Transferrin : 450 mg/ dl ( NR 200-400 mg/dl)
• Total iron-binding capacity : 600 μg/ dl ( NR 251 – 406 μg/ dl)

• Peripheral smear shows microcytic hypochromic picture.

a) What is the probable diagnosis?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
b) Comment on the laboratory report in the support of diagnosis?
c) Describe the sources, absorption and functions of iron?
d) Why vitamin c is given in the treatment of iron deficiency anemia?

33) A fair fatty, female aged forty yrs. admitted to hospital with a H/O abdominal pain,
Vomiting, nausea, loss of appetite, weakness, passing of yellow colored urine and clay
colored stool. O/E, yellow coloration of skin and conjunctiva present. Tenderness present
in the right hypochondriac region
Laboratory report reveals:
• Serum Total Bilirubin : 20.0 mg/dl
• Serum Direct Bilirubin (Conjugated) : 16.0 mg/dl
• Serum indirect Bilirubin (Unconjugated) : 4.0 mg/dl
• SGOT (AST) : 85.0 U/L
• SGPT (ALT) : 98.0 U/L
• Serum Alkaline Phosphatase : 1000 U/L
Urine Analysis:
• Bile pigments : +Ve
• Bile Salt : +++
• Urobilinogen : -Ve
• Fecal Stercobilinogen : -Ve

a) What is the probable diagnosis?

b) Comment on the laboratory report in the support of diagnosis?
c) Describe the causes of obstructive jaundice?
d) How do you differentiate obstructive jaundice and hepatic jaundice?
e) Explain Vanden Bergh reaction?

34) A 8 month old girl was brought to the clinic because of excessive exhaustion and fatigue,
she was on diluted formula milk with water for the past one month. O/E examination the
child was irritable had starved appearance, weight was much below for height, mid arm
circumference was 12 cm, skin dry and atrophic, shrunken abdomen, absence of
hepatomegaly, no change of hair.
The blood results:
• Serum Total Proteins : 6.5 gm/dl
• Serum Albumin : 3.5 gm/dl
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
• Serum Globulins : 3.0 gm/dl
a) Give your probable diagnosis
b) Give reasons for your diagnosis
c) Give the outline of the treatment.
d) How do you differentiate between kwashiorkor and marasmus?
e) Define specific dynamic action?

35) A 9 yrs old girl admitted in the pediatric ward with a H/O swollen face, decreased frequency
of passing dark colored urine. Also gives H/O fever, weakness and loss of appetite. O/E
facial edema present, pallor present and swelling of lower limbs present.
The blood and urine results:
• Serum cholesterol : 410.0 mg/dl
• Blood urea : 40.0 mg/dl
• Serum Creatinine : 2.0 mg /dl
• Serum total protein : 5.0 g/dl
• Serum albumin : 2.2 g/dl
Urine analysis:
• Albumin : ++++
• Benzidine glacial acetic acid test : Negative
a) What is the probable diagnosis?
b) Comment on the laboratory report in the support of diagnosis?
c) Mention the normal ranges for blood urea and serum creatinine? How do you calculate
BUN?
d) What is proteinuria? Mention the causes?
36) Baby born at term with normal antenatal history by normal vaginal delivery developed
jaundice on day two. Clinically baby looked well and active, breast feeding well. Now
baby is day 4, jaundice is increasing, but clinically baby is well.
Lab data:
• S. Bilirubin : 12 mg/dl
• Mother’s blood group : O +ve
• Baby’s blood group : A +ve
• Direct coomb’s test (DCT) : Negative
• Other LFTs : Normal
• Reticulocyte Count : Normal

a) What is the probable diagnosis?

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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
b) How do you rule out other causes of early jaundice in the new born? Can it lead to
kernicterus?
c) Explain the mechanism of heme degradation?

37) A 56 year old man who smoked heavily for many years developed worsening cough with
sputum was admitted to hospital because of difficulty in breathing he was drowsy and
cyanosed
ABG results:
• pH : 7.24
• pCO2 : 60 mmHg
• HCO-3 : 26 mmol/L
• pO2 : 50 mmHg

a) What is the probable diagnosis?

b) Write the laboratory findings in the support of your diagnosis?
c) What are causes of this condition?
d) Describe the role of lungs in the regulation of acid-base balance?

38) A 40 year old known asthmatic

ABG Analysis:
• pH : 7.48
• pCO2 : 30 mmHg
• HCO3- : 19 mmol/L

a) What is the probable diagnosis?

b) Write the laboratory findings in the support of your diagnosis?
c) What are causes of this condition?
d) Describe the role of lungs in the regulation of acid-base balance?

39) A two month old baby girl was brought by her parents for consultation. She had pale skin,
blonde hair and pink iris. The baby girl was otherwise healthy, feeding well but was unable
to fix the gaze. Parents revealed that their first two children, a boy and girl, had complete
albinism, but the parents themselves were normal. The eye examination of the child showed
absence of pigment in the retina.
a) What is the probable diagnosis?
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
b) What is the biochemical abnormality of this disease?
c) Name the compounds synthesized from tyrosine?
d) Describe the steps of melanin synthesis from tyrosine?

40) A 21 year old man admitted to the casualty with H/O severe pain in his right side of
abdomen and back and not passing urine since overnight.
O/E
• Tenderness : + over the Rt lower quadrant of the abdomen.
• Urine examination : ↑ Cystine , Arg , & Lys

a) What is the probable diagnosis?

b) What is the cause of ↑ excretion of Cys, Arg & Lys ?
c) What is the cause of kidney stones?
d) What is transmethylation? Give any four examples?

41) A 1 week old infant presented with vomiting, convulsions, dehydration. His mother also
complained that the baby was passing urine which smelled like burnt sugar. Dinitrophenyl
hydrazine (DNPH) test positive forming thick yellow precipitate. Rothera’s test was found
to be positive. The plasma and urine concentrations of branched chain amino acids were
found to be very high.
Laboratory findings:
• Blood pH : 7.33
• Bicarbonate : 12 mmol/L
• Urine ketone bodies : +Ve

a) What is the probable diagnosis?

b) Which enzyme is defective in this disorder?
c) Why there is decreased levels of bicarbonates in this condition?
d) Name branched chain amino acids? How they are metabolized?

42) The vitamin B12 deficiency patient came to the hospital with neurological symptoms. His
MRI shows degenerative changes in spinal cord. Peripheral smear shows megaloblastic
RBCs and serum methylmalonate level was raised.
a) What is the probable diagnosis?
b) What is the active form?
c) What are the deficiency manifestations?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
43) A 35 yr old female underwent a routine health check-up.
O/E:
• Body weight : 70 Kgs Height : 150 cms
• BM : 31 Waist circumference : 90 cms
• BP : 134/90 mmHg
Lab data:
• Serum Triglycerides : 223 mg/dl
• Fasting Blood Glucose : 120 mg/dl
• Serum Uric Acid : 8 mg/dl
• HDL Cholesterol : 26 mg/dl
a) What is the probable diagnosis?
b) What are the criteria for the diagnosis of this disorder?
c) Describe lipid profile with normal ranges?
d) Describe the metabolism of HDL? Write the functions of HDL?

44) A 60 years old women came to the hospital with complains of proximal muscle weakness
and hypotonia on observation the patient exhibits waddling gait and knock-knees. The
woman wears the purdah regularly and is not exposed to sun light it seems to be suffering
from nutritional deficiency. Laboratory findings
Laboratory report reveals:
• Plasma calcium : 6 g/dl
• ALP : 200 IU/L
• PTH : 70 ng/L
a) What is the diagnosis?
b) Explain the biochemical features of this case.
c) Describe the sources, RDA and functions of Vitamin D?
d) Explain the mechanism of calcium regulation?

45) An 8 yr old boy admitted to orthopedic ward with a H/O retarded growth, difficulty in
walking, delay in teeth formation, bony pain and generalized weakness. O/E, frontal
bossing, bow legs, pigeon chest and bony tenderness present.
The blood analysis shows:
• Serum Calcium : 7.0 mg/dl
• Serum Inorganic Phosphate : 2.0 mg/dl
• Serum Alkaline Phosphatase (ALP) : 600.0 units/L
• Serum Vitamin - D3 (25-Hydrocholecalciferol) : 0.8 µg/dl
a) What is the probable diagnosis?
b) Write the laboratory findings in the support of your diagnosis?
c) Write the sources, RDA and functions of Vitamin D
d) Discuss different types of rickets?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
46) 10 year old child brought to hospital with complains of bleeding gums delayed wound
healing and red hemorrhagic spots all over the body.
a) What is the probable diagnosis?
b) Which factor deficient in the diet?
c) Name rich source of this deficiency?
d) Give any four functions of this deficient factor?

47) A 2-year-old male child admitted to pediatric OPD, with features of bleeding tendency-
ecchymosis, hemorrhage in the mucous membranes. Investigations showed prolonged
Prothrombin Time & delayed clotting time. The condition improved with vitamin K
administration.
a) What is the probable diagnosis?
b) Role of vitamin K in coagulation.
c) Inhibitors of vitamin K.
d) Explain the biochemical role of vitamin K?

48) A three months old home delivered male baby was brought to the pediatric OPD. O/E –
doll like face with fat cheeks, thin extremities, protruded abdomen. Systemic examination:
Hepatomegaly + Histopathological examination of liver biopsy: Distended hepatocytes
with glycogen & lipid vacuoles.
Blood examination:
• FBS : 35 mg/dl
• ALT : 150 U/L
• AST : 30 U/L
• ALP : 40 U/L
• Uric acid : 9.5 mg/dl
• Triglycerides : 300 mg/dl
• Cholesterol : 350 mg/dl
• Lactate : 95 mg/dl
Urine analysis:
• For glucose : Negative
a) What is the clinical diagnosis?
b) Write the laboratory findings in the support of your diagnosis?
c) Explain the biochemical features of this case.
d) Describe the role of hormones in the regulation of glycogen metabolism?
e) What is hypoglycemia? Mention any two causes?
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
49) A 1 year old boy showed signs of slow motor development. His mother had noticed orange
crystals on his diapers, but she did not report this to the child’s pediatrician until questioned
about it several months later when she became concerned about the boy’s failure to develop
and his compulsive urge to bite finger nails and lips. O/E: Mental retardation & Scarring of
lips and skin present.
Laboratory data reveals:
• RBS : 70 mg/dl
• Uric acid : 10 mg/dl
• Hb % : 11 gm
• Creatinine : 1.5 mg/dl
• Urea : 40 mg/dl
• Microscope examination shows enlarged RBCs (Megaloblastic anemia)

a) What is the probable diagnosis?

b) Write the laboratory investigations in the support of your diagnosis?
c) Describe the steps of purine degradation?
d) What is uric acid? Mention its normal range?

50) A child of 12 years age was brought to the physician with a complaint of thick mucous
secretions, repeated lung infections, fatty stools and reduced weight to his age. The doctor
suggested investigation of chloride assessment in sweat. Laboratory tests showed decreased
chloride secretion in sweat.
a) What is the probable diagnosis?
b) What investigations are done to diagnose this condition?
c) Describe the types and functions of ion channels with suitable diagram?

STRUCTURED LONG ANSWERS (NO 50)

1) What are ion channels? Describe the types and functions of ion channels with suitable
diagram?
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NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
2) Describe in detail the structure of cell membrane (fluid mosaic model). Write briefly the
different mechanisms of transport of materials across it.
3) Define enzyme inhibition? Mention the different types of enzyme inhibition with suitable
examples?
4) Define enzymes. Write in detail about the classification of enzymes with suitable examples
& mention the various factors that affect the rate of enzyme catalysed reactions?
5) What are iso-enzymes? Mention the clinical significance of LDH, CPK and ALP? Describe
the methods used for the separation of isoenzymes?
6) Write the labelled structure of cholesterol, write the steps of cholesterol biosynthesis and
its regulation? Add a note on the important compounds derived from cholesterol?
7) Describe the process of glycolysis in RBC? Write the energetics of the pathway? Explain
how glycolysis is regulated?
8) What is glycogenolysis? Outline the sequence of reactions involved in the breakdown of
glycogen in the skeletal muscle? Explain the enzyme defect and biochemical findings in
Von-Gierke’s Disease?
9) Discuss the formation of acetyl-CoA from pyruvate. How acetyl-CoA is metabolized in
TCA cycle? How TCA cycle is regulated?
10) Describe the mechanism of blood glucose regulation? What are the causes of
hyperglycemia and hypoglycemia?
11) Define oxidative phosphorylation? Explain the mechanism of ATP synthesis with suitable
diagram? What are uncouplers and mention any two uncouplers?
12) Describe the structure of insulin with suitable diagram? Explain the mechanism of action
of insulin? Write a note on metabolic effects of insulin?
13) Define ketogenesis and ketolysis? Write the steps involved in ketogensis and ketolysis and
its regulation? Add a note on biochemical mechanisms and laboratory findings in Diabetic
Ketoacidosis?
14) Beta oxidation of palmitic acid: steps, energetics, regulation and disorders associated with
the defect in beta oxidation?
15) Write the steps of fatty acids synthesis and add a note on its regulation?
16) Define phospholipids, classify, and add a note on functions of phospholipids in detail?
17) Enumerate various parameters of fasting lipid profile, mention the normal ranges and add
a note on clinical utility of these parameters?
18) Write the structure of cholesterol? Mention its normal serum levels? Describe the pathway
involved in the biosynthesis of cholesterol?
19) Describe the process involved in the transport of endogenously produced triglycerides in
plasma from liver? Mention the normal serum triglyceride levels? Indicate the
abnormalities associated with this process?
20) How are prostaglandins synthesized? Indicate their importance as local hormones? Mention
the effects of drugs acting on this pathway?

21) Describe the reactions of urea cycle? Discuss the interrelation of urea cycle and citric acid
cycle?
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
22) Describe the steps by which ammonia is transported and detoxified? Mention the normal
blood ammonia levels? What is hyperammonemia and mention its causes and clinical
manifestations?
23) What are aromatic amino acids? Describe the pathway of degradation of phenylalanine?
Write a note of phenylketonuria?
24) Describe the pathway involved in catecholamine synthesis? Mention the compounds
synthesized from tyrosine? Explain the rationale of biochemical investigations done in
pheochromocytoma?
25) Name sulfur containing amino acids? Describe the metabolism of methionine? What is
homocystinuria mention the causes and explain the laboratory investigations done to
diagnose homocystinuria?
26) Outline the pathway of heme synthesis? Mention its regulation? Describe the clinical and
biochemical manifestations of acute intermittent porphyria?
27) Describe the catabolism of heme by heme oxygenase system? What is jaundice? How do
you differentiate hemolytic, obstructive and hepatic jaundice using biochemical
investigations?
28) Classify and enumerate common renal function tests? How urea clearance test is done?
What is its clinical significance?
29) Name the important buffer systems in the body? Describe the role of buffers, lungs and
kidney in the maintenance of acid-base balance?
30) Describe the sources, requirement, biochemical functions and deficiency manifestations of
vitamin A?
31) Describe the sources, requirement, biochemical functions and deficiency manifestations of
vitamin D?
32) Describe the sources, requirement, biochemical functions and deficiency manifestations of
vitamin B12?
33) Describe the sources, requirement, biochemical functions and deficiency manifestations of
Folic acid?
34) What is the normal blood level of calcium? Describe the mechanism by which calcium
homeostasis is maintained?
35) Describe the sources, requirement, absorption, biochemical functions and deficiency
manifestations of Iron?
36) What is balanced diet? How do you prepare a diet for normal young adult male of sedentary
habits?
37) What is protein energy malnutrition? Describe the different types and effects of PEM? How
do you differentiate kwashiorkor and marasmus?
38) Describe the process of replication in Eukaryotes? Explain the mechanism of nucleotide
excision repair with its clinical significance?
39) Describe the process of replication in Eukaryotes? Name two inhibitors of replication?
40) Describe the process of transcription in Eukaryotes? Explain post transcriptional
modifications of mRNA?
41) Describe the process of transcription in Eukaryotes? Name two inhibitors of transcription?
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
42) Describe different types of RNA? What is codon? Describe the salient features of genetic
code?
43) What is translation? Discuss the process of translation in Eukaryotes? Mention two post
translational modifications?
44) Describe the principle, procedure and applications of recombinant DNA technology in
Medicine?
45) Enumerate different Immunoglobulins? Describe the structure of Immunoglobulins?
Compare the salient features of different classes of Immunoglobulins?
46) Describe various biochemical tumor markers? Explain the basis of cancer therapy?
47) Describe the structure of collagen with suitable diagram? Explain the biochemical basis of
Osteogenesis Imperfecta and Ehlers-Danlos syndrome?
48) Describe the steps involved in purine biosynthesis? What are purine analogues?
49) What is uric acid? Write the normal range of uric acid? Explain the steps of catabolism of
purines? Write a note on Lesch-Nyhan syndrome?
50) Enumerate liver function tests. Mention their usefulness in the diagnosis of liver disease?

SHORT ANSWER QUESTIONS (no 100)

1) Fluid-mosaic model.
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
2) Write the composition and structure of plasma membrane.
3) What are ion channels? Mention its types and functions?
4) What is active transport? Mention the types of active transport with suitable examples?
5) What are exosomes? Write their functions?
6) What are marker enzymes? Give four examples?
7) Describe the function of peroxisomes? Add a note on Zellweger syndrome?
8) Define Km and Vmax? Comment on Km and Vmax in competitive inhibition? Mention
two drugs acting as competitive inhibitors?
9) Cardiac biomarkers
10) Describe the factors affecting the enzyme activity?
11) What are isoenzymes? Explain the significance of isoenzymes of CPK?
12) Enumerate the isoenzymes of LDH? Mention the various methods for the separation of Iso-
enzymes?
13) What is allosteric regulation? Explain how glycolysis is allosterically regulated? Give one
example?
14) What is mechanism based inhibition? Explain its mechanism with suitable example?
15) What are diagnostic enzymes? Give five examples for diagnostic enzymes?
16) What are therapeutic enzymes ? Give five examples for therapeutic enzymes?
17) Discuss the composition and functions of glycosaminoglycans?
18) Substrate level phosphorylation.
19) Explain the significance of HMP pathway.
20) What is gluconeogenesis? Explain the mechanism of its regulation?
21) Describe the diagnostic criteria for diabetes? Mention normal fasting blood glucose and
post prandial blood glucose levels? What is glycated hemoglobin?
22) Describe the biochemical changes in diabetes mellitus? What is insulin resistance? How do
you estimate insulin resistance?
23) Describe the biochemical changes in diabetic ketoacidosis?
24) How do you perform oral glucose tolerance test? Write the indications of oral glucose
tolerance test?
25) Glycogen storage disorders
26) How fructose is metabolized? Describe the biochemical findings and clinical presentation
of hereditary fructose intolerance?
27) Fatty acid synthase complex.
28) Compound lipids
29) Phospholipids
30) Essential fatty acids
31) What is LDL? Explain how LDL is metabolized?
32) Describe how the fatty acids undergo beta oxidation? Mention how this process is
regulated?
33) Mention ketone bodies? Describe the process of ketogenesis in the liver? Why ketone
bodies are not utilized by the liver?
34) What are eicosanoids? Describe the functions of prostaglandins.
35) Describe the reactions of urea cycle?
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
36) What is glutathione? Mention its role in amino acid absorption and mention its uses?
37) What are one carbon compounds? Explain briefly one carbon metabolism?
38) What is transamination? Give two examples and mention two uses of transaminases?
39) Describe the metabolic functions of Glycine?
40) Define transmethylation? Explain the role of methionine in transmethylation reactions?
41) Cystinuria
42) Homocystinuria
43) S-adenosyl methionine
44) Discuss the inborn errors of Glycine Metabolism
45) Alkaptonuria
46) Phenylketonuria
47) Vanillylmandelic acid
48) Mention catecholamines? Describe the pathway for the synthesis of catecholamines?
49) Compounds derived from tyrosine
50) Compounds derived form tryptophan
51) Describe the steps of serotonin biosynthesis and explain its clinical significance.
52) What is Hartnup’s disease? Explain the biochemical findings in Hartnup’s disease?
53) Explain how tryptophan is metabolized?
54) Prenatal diagnosis
55) Newborn screening
56) Amniocentesis
57) Explain the metabolic changes in trauma and illness
58) Explain the metabolic adaptations in starvation
59) What are metabolic changes occurring in the body after 12 hours of fasting
60) Regulation of heme synthesis
61) Crigler-Najjar syndrome
62) Hemolytic jaundice
63) Hepatic jaundice
64) Obstructive jaundice
65) Acute intermittent porphyria
66) Liver function tests
67) Thyroid function tests
68) Renal function tests
69) Phase II detoxification reactions
70) Metabolic Acidosis and Metabolic Alkalosis
71) Respiratory Acidosis and Respiratory Alkalosis
72) Arterial blood gas analysis
73) Role of lungs in the regulation of pH
74) Role of kidney in the regulation of pH
75) Hyperkalemia and Hypokalemia
76) Hypernatremia and hyponatremia
77) Hypercalcemia & Hypocalcemia
78) Functions of magnesium & hypomagnesemia
 NIMS UNIVERSITY
NATIONAL INSTITUTE OF MEDICAL SCIENCES, JAIPUR
DEPARTMENT OF BIOCHEMISTRY
79) CSF analysis
80) What are free radicals? How they are produced?
81) Describe role of antioxidants in our body. Mention the therapeutic antioxidants
82) Functions and deficiency manifestations of Thiamine
83) Describe the antioxidant role of Vitamin E
84) Oncofetal antigens
85) Hormones as tumour markers
86) Role of pyridoxine in amino acid metabolism
87) Functions and deficiency manifestations of Iron
88) Functions and deficiency manifestations of selenium
89) Functions of Zinc and copper
90) Wilsons disease
91) BMR
92) BMI
93) SDA & RQ
94) Degradation of purine nucleotides
95) Gout
96) Structure of DNA
97) Structure and functions of collagen
98) Cell mediated immunity
99) PCR
100) Concepts involved in development of Vaccines