Based on the information provided: Q1. Identify the disease? Refsum disease Q2. What is accumulated? Phytanic acid

1. 1.IDENTIFY THE GIVEN DISORDER.
2.WHICH MICRONUTRIENT WILL LEAD TO THIS
DISORDER.

2. 1.IDENTIFY THE GIVEN DISORDER.
2.WHICH MICRONUTRIENT WILL LEAD TO THIS
DISORDER.

3. 1.IDENTIFY THE GIVEN DISORDER.
2.WHICH MICRONUTRIENT WILL LEAD TO THIS DISORDER.
3.WRITE TWO BIOCHEMICAL PARAMETERS WHICH GETS ALTERED IN
THIS DISORDER.
4.WHICH AGE GROUP GETS AFFECTED BY THIS DISORDER.

4. 1. IDENTIFY THE GIVEN DISORDER.
2.WRITE TWO BIOCHEMICAL PARAMETERS ALTERED IN THIS
DISORDER.

5. 1. IDENTIFY THE GIVEN DISORDER.
2. WRITE TWO BIOCHEMICAL PARAMETERS ALTERED IN THIS
DISORDER.

6. 1. IDENTIFY THE GIVEN DISORDER.
2.WRITE TWO BIOCHEMICAL PARAMETERS ALTERED IN THIS
DISORDER.
3.WHICH MICRONUTRIENT WILL LEAD TO THIS DISORDER.
4.WHICH AGE GROUP GETS AFFECTED BY THIS DISORDER.

7. 1.IDENTIFY THE GIVEN DISORDER.
2.WRITE THE BIOCHEMICAL PARAMETERS ALTERED IN THIS
DISORDER.

8. Serum
Bilirubin (Total)
Conjugated Bilirubin
Unconjugated Bilirubin
SGOT (AST)
SGPT (ALT)
Alkaline phosphatase
Hb
5.0 mg/dL
4.5 mg/dL
0.5 mg/dL
38 IU/L
36 IU/L
856 IU/L
12 gm %
Urine
Bilirubin
Bile salts
Urobilinogen
+++
+++
- --
Stool
Stercobilinogen ---
Patient came to surgical OPD with complaints of pain abdomen, itching
all over the body and passing clay colored stools. Results of biochemical
tests are as follows:-
1. Identify the most probable type of jaundice.
2. What may be the cause which may lead to above jaundice.

9. Serum
Bilirubin (Total)
Conjugated Bilirubin
Unconjugated Bilirubin
SGOT (AST)
SGPT (ALT)
Alkaline phosphatase
Hb
5.0 mg/dL
3.0 mg/dL
2.0 mg/dL
200 IU/L
280 IU/L
123 IU/L
12 gm %
Urine
Bilirubin
Bile salts
Urobilinogen
+
+
present
Stool
Stercobilinogen ---
A young male came with complaints of nausea, vomiting and lose of
Appetite, malaria, fever and pain in right upper abdomen. Results for the
Biochemical tests are as follows:-
1. Identify the most probable type of jaundice.
2. What may be the cause which may lead to above jaundice.

10. Serum
Bilirubin (Total)
Conjugated Bilirubin
Unconjugated Bilirubin
SGOT (AST)
SGPT (ALT)
Alkaline phosphatase
Hb
5.0 mg/dL
0.5 mg/dL
4.5 mg/dL
38 IU/L
36 IU/L
123 IU/L
7.2 gm %
Urine
Bilirubin
Bile salts
Urobilinogen
---
---
+++
Stool
Stercobilinogen +++
A patient reported OPD with complain of passing reddish colored urine .
On examination yellow discoloration of sclera was seen. Results for
biochemical tests were as follows:-
1. Identify the most probable type of jaundice.
2. What may be the cause which may lead to above jaundice

11. A 37 yrs old individual was brought to the
emergency room in a state of shock. He also had
a low urine output. His renal function is shown
as under :
Serum urea – 210 mg/dL
Serum creatinine – 2.0mg/dL
1.What is the normal blood urea level?
2.What kind of kidney disease is this?

12. The value of serum glucose was given
as 360 mg/dL by a clinical laboratory.
Convert this value into mmol/L
[MW. of glucose 180]

13. Calculate creatinine clearance from the following
values:-
Plasma Creatinine – 1.0mg/dl
Urine Creatinine – 60mg/dL
Volume of urine – 2400ml/day

14. A young patient reported to the O.P.D by his parents
with the complaint that he has mental retardation. A
tendency for hypo pigmentation of skin associated
with eczema was observed. Provisionally the case was
diagnosed as a PKU (Phenylketonuria).
1. Suggest laboratory investigation to confirm the
diagnose.
2. What is the reason for hypopigmentation?

15. A 15 years old boy was brought in a state of coma to
the hospital. Onset of condition was sudden. He was
having a deep and heavy kind of breathing. He also
had a fruity odor in his breath. Blood glucose done at
the time revealed a level of 825mg/dL.Benedict’s and
Rothera’s test were positive.
1. What is the probable clinical diagnosis?
2.What is the basis of the fruity odour in his breath?

16. A 5 years old child was brought to the hospital with
mental retardation and frequent episodes of
hypoglycemia. On examination the child was also
detected having cataract. Urine examination of the
child showed presence of reducing substances. He was
diagnosed to be a case of Galactosemia. However the
blood glucose was low.
1. Which enzyme deficiency results in the above
condition?
2. Why did the child have cataract?

17. Patient was investigated and blood urea was
reported as 150 mg/dl.
1.Mention three conditions in which blood urea
increases
2.Calculate blood urea nitrogen (BUN) for the
above value.

18. 1. Identify the plot.
2.What is the type of inhibition seen and justify the
answer.
[1/V]
[1/S]
Inhibitor
No inhibitor

19. 1. Identify the plot.
2. What is the type of inhibition seen and justify the answer.
No Inhibitor
[1/V]
[1/S]
Inhibitor

20. 60 year old man was brought to the emergency
department with severe chest pain radiating
towards the left shoulder with breathlessness,
vomiting and profuse sweating. The clinician
on duty suspected myocardial infarction (MI).
1.Which enzyme assay is most diagnostic in this
case?
2.What is the earliest biochemical marker to
diagnose MI?

21. PARAMETERS NORMAL RANGE
pH 7.35 – 7.45
pCO2 35 - 45
HCO3 22 - 26
pH pCO2 HCO3
7.30 36 18
Interpret the ABG report of a given patient.
1. Identify the abnormality.
2. Justify your answer.

22. PARAMETERS NORMAL RANGE
pH 7.35 – 7.45
pCO2 35 - 45
HCO3 22 - 26
Interpret the ABG report of a given patient
pH pCO2 H CO3
7.28 56 25
1. Identify the abnormality.
2.Justify your answer.

23. PARAMETERS NORMAL RANGE
pH 7.35 – 7.45
pCO2 35 - 45
HCO3 22 - 26
Interpret the ABG report of a given patient.
pH pCO2 HCO3
7.53 36 30
1. Identify the abnormality.
2.Justify your answer.

24. A boy aged 5 yrs was brought to the hospital
with abdominal swelling. On examination the
liver was found to be enlarged. Biochemical
tests showed increased uric acid, FFA, and
hypoglycemia.The boy was diagnosed with Von
Gierke’s disease.
1.Hypoglycemia was due to ….
2.Name another manifestation (sign/ symptom)
of this disease.

25. A 50 yr old man with a history of spontaneous
fractures and deep aching pains which are
aggravated by carrying weights. On investigation
levels of calcium , phosphorous and alkaline
phosphate were raised.
1.What are the normal levels of serum alkaline
phosphate ?
2.Write 2 physiological states in which alkaline
phosphate is raised.

26. Q1) Identify the disease which causes periorificial and acral dermatitis
In infancy and children due to zinc deficiency
Q2) Give its recommended alloted reuirement.

27. History of photosensitivity, pain abdomen,Nausea vomiting,anxiety Cutaneous blisters
darkening of skin ,Rashes, On sun exposure, high colored urine,Mental confusion ,
seizures
Q1) Identify the disease?
Q2) Tests in urine?

28. History of weakness , tiredness, paleness
On examination... Palor, glossitis , koilonychia (spoon shaped nails), cheilitis
Q1)Which condition is it?
Q2) What is the recommended daily alloted requirement?

29. Patient presents with night blindness, white spots on cornea , clear part of cornea becomes
cloudy and softens... Keratomalacia
Spiny keratenous papules On elbow and forearm.. Phrynoderma
Q1)Which vit deficiency?
Q2)Recommend daily allotted requirement?
Q3)Source: ?

30. Bruising, bleeding gums, weakness, fatigue and rash. Petichae
Q1)Name the disease?
Q2)Name the deficient vitamin?
Q3)Recommended daily allotted requirement? And source?

31. Mutation in gene for copper transport protein
Kinky hair (Sparse hair),growth failure, nervous system
deterioration
Symptoms develop in infancy,do not live past 3 years
Q1) Identify the disease
Q2) Which mineral is deficeint.

32. Rash on the face, lips, feet, or hands. In some
people, dermatitis forms around the neck, a
symptom known as Casal necklace.
Other Symptoms include inflamed skin,
diarrhea, dementia, and sores in the mouth.
Q1)Identify disease?
Q2)Which vitamin defeciency?
Q3)Source ?

33. Lipid storage disease characterized by deposition of
glucosecerebroside in cells of macrophage monocyte
system .Enlarge liver and sprain, low number of RBCs
(Anemia),easy bruising due to decreased blood
platelets.
Q1)Name the Disease
Q2) Which enzyme deficiency?

34. A group of metabolic disorders caused by the absence or malfunctioning of lysosomal
enzymes needed to break down molecules called glycosaminoglycans(GAGs). These long chains
of sugar carbohydrates occur within the cells that help
build bone, cartilage, tendons, corneas, skinand connective tissue. GAGs (formerly called
mucopolysaccharides) are also found in the fluid that lubricate joints
There is abnormal accumulation of heparan sulfate, dermatan sulfate, and keratan sulfate.
Q1) Identify the group of the metabolic disorders.
Q2) Give two examples.

35. Q. 1 Identify the disease ?
Q.2 What is accumulated ?
• Patients with disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase
(PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation.
• It is an autosomal recessive trait
• There is complex developmental sequelae, and progressive disabilities.
• Peripheral polyneuropathy, cerebellar ataxia, , retinits pigmentosa and ichthyosis are the major clinical components. The
symptoms evolve slowly and insidiously from childhood through adolescence and early adulthood.
• Symptoms begin by late childhood or adolescence, although there are reports of presentation as late as 50 years of age.
• Disease presents with anosmia and early-onset retinitis pigmentosa, with variable neuropathy, deafness, ataxia and
ichthyosis.
• Treatment
• Phytanic acid is obtained from the diet, particularly from meat and dairy products. Dietary restriction helps to control
sensory neuropathy, myopathy, ataxia and ichthyosis. In acute presentation