Final Cases Minor

B.V.V.
Sangha’s
S. Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and
Research Centre, Bagalkot .
Department of Biochemistry
Sr. No. Minor Cases
1 Alkaptonuria
2 PKU (a)
3 PKU(b)
4 Vit A Deficiency
5 Rickets
6 Scurvy
7 Megaloblastic Anemia
8 Iron deficiency Anemia
9 Tetany
10 Multiple Myeloma
11 Gout
12 Normal Glucose Tolerance chart
13 Abnormal Glucose Tolerance chart
14 Wilsons Disease
15 Galactosemia
16 Von Gierke Disease
17 Beri Beri
18 Pellegra
19 Sickle Cell Anemia
20 MSUD
B.V.V. Sangha’s
Case Report - Minor
1. A Mother rushed to the pediatric clinic after noticing dark stains on diapers
after few hours of discarding urine.
Urine Examination.
The urine of the baby turned black on standing and turned a purple black
color on addition of ferric chloride.
Questions:
1. What is your probable diagnosis based on clinical history?
2. Name the enzyme deficient.
3. Name the compound present in urine turning urine black.
4. What is ochronosis?
B.V.V. Sangha’s
Case Report - Minor
2. A 2 years old boy was brought to hospital with delayed milestones,
hypopigmented skin and eczema. His mother informed that he had seizures
in early life. Blood level of phenylalanine was elevated and sweat gave the
mousy odour.
Questions:
1. What is the probable diagnosis?

2. Mention enzyme defect?
3. Why blood level of phenylalanine is elevated?
4. What is the cause for mousy odor?
B.V.V. Sangha’s
Case Report - Minor
3. A 2 week old female infant admitted to hospital. Her following

investigations were performed:
Lab investigations revealed: Result Reference range
Serum Phenyl Alanine concentration : 30 mg/dl 0-2 mg/dl
Serum Tyrosine concentration : 2 mg/dl
Urine phenolic acids : Present
FeCl3 test : Ketones present
Questions:
1. What is your probable diagnosis based on clinical history?
2. Name urine phenolic acids present.
3. Why blood level of phenylalanine was elevated?

B.V.V. Sangha’s
Case Report - Minor
4. A 2 year old child presented with chronic cough and bronchitis, growth
failure and passage of light colored foul smelling stools. Mother of the child
reported that the child was finding it difficult to locate things in the dim light
and during night time.
Ocular examination of left eye revealed corneal epithelium ulcerated.
Questions:
a) What is the deficient bio molecule in this child ?
b) Mention three vitamins.
c) What is the cause for these symptoms?
d) Write the other 2 deficiency eye manifestations of this vitamin.
e) How this disease can be prevented?

B.V.V. Sangha’s
Case Report – Minor
5. A 3 year old child was brought to hospital with complaints of bow legs,
protruding forehead, pigeon chest deformity and poor growth of the child.
Lab investigations revealed:
Result Reference range
Vitamin D : <10 ng/ml 10-30ng/ml
Serum calcium : 7.4 mg/dl 9-11 mg%
Serum phosphorous : 2.2 mg/dl 2.5-4.5mg%
Serum ALP : 505 IU/L 70-140U/l
Questions:
1. What is your probable diagnosis?

2. Which biomolecule is deficient in this disorder?
3. Write the RDA of the biomolecule in children.
4. Mention the functions of the concerned biomolecule.
5. Mention three different types of this disorder.
B.V.V. Sangha’s
Case Report - Minor
6. A 10 year old boy presented with spongy bleeding gums and loose teeth. He also had
painful joints and subcutaneous hemorrhage.
Result Normal Value
Vitamin C : 0.1mg/dl 0.4-1.5mg/dl
Hemoglobin : 9.0 g/dl 10-14gm/dl
Peripheral smear was done and it showed microcytic hypochromic anemia with
poikilocytosis and anisocytosis.
Questions:
1. What is the disease he is suffering from?
2. What is the biochemical basis for the disease?
3. Give the RDA & sources for the concerned biomolecule.
4. Write other 2 functions of concerned mineral.

B.V.V. Sangha’s
Case Report - Minor
7. A 30 year old man, a strict vegetarian who does not consume even dairy products visited the
hospital with complaints of weakness, pallor, loss of sensation in the extremities and mental
confusion. On investigating
Hemoglobin = 7gm/dl
Peripheral blood smear showed large, abnormal and immature RBC’s
Large amounts of methylmalonic acid were detected in his urine samples.
Questions:
2. Name the biochemical molecule deficient in the above condition.
3. Mention the sources and RDA of this biochemical molecule.
4. Mention the 2 biochemical reactions catalyzed by this biomolecule as co-enzyme.
5. How do you manage the above condition?
Case Report – Minor

B.V.V. Sangha’s
8. A 18 year adolescent girl came to medicine OPD with her mother to seek the Physician
consultation. Mother complains that her daughter was lethargic, looks pale, inability to do her
routine work and easily get fatigued. She is not looking normal and active compared to other
girls of her age group. On further questioning she revealed she was having excessive bleeding
during menstrual cycle since six months. Mother also complains, she is choosy in her food habits
mostly consist of fast foods and snacks.
There was no h/o fever, drug intake and abdominal pain. O/E physician found she had
tachycardia, conjunctiva and oral cavity looks pale and koilonychia. Blood investigation revealed
Sample Reference range
Haemoglobin g/dL 8.1 13-15
Serum iron ng//dL 38 50-150
Serum Ferritin mg/L 23 50-200
TIBC mg/L 360 300 - 350
Questions:
2. What is the cause in this patient?
3. Write the sources and RDA of deficient mineral.
4. Explain the absorption, storage, transport and excretion form of the element involved in
this disease with neat labeled diagram.
5. Write the other causes for this condition.
6. What investigations are done to confirm the disease?
7. How will you treat this patient?
Case Report - Minor

B.V.V. Sangha’s
9. A 40 year old woman, presented with the complaints of cramps and spasm of both hands.
Positive trousseau’s and chevostek’s signs were elicited. Past history revealed that she
had undergone parathyroidectomy six months ago.
The present biochemical findings were:
Serum calcium : 4 mg/dl

Serum phosphate : 6 mg/dl
Serum alkaline phosphatase : 65 IU/L 70-150 IU/L
Questions:
1. What is the likely diagnosis?

2. What are chevostek’s & trousseau’s signs?
3. Mention the normal values of calcium and phosphorous.
4. Name the 3 hormones which regulate these minerals.
B.V.V. Sangha’s
Case Report - Minor
10. A 45 year old man presented with severe back pain and weakness. He had lost 8kgs
weight in three months. There was apparent loss of appetite. There was no history of
fever or any illness. He reported that he was having constant body aches and was too
tired to do the routine work.
The X-ray skull revealed punched out lesions.
His bone marrow biopsy showed an excess of plasma cells.
Serum electrophoresis showed an abnormal band between β globulin and gamma

globulins.
Urine test for Bence Jones proteins was positive.
Questions:
a) Interpret the electropherogram.
b) What is the probable diagnosis based on clinical history?
c) What are Bence Jones proteins?

B.V.V. Sangha’s
Case Report - Minor
11. One evening, a 40 year old male business executive drank alcohol in a party. In the next
morning, he woke up with excruciating pain in ankle. His ankle joint was swollen and
red, felt hot to touch & was very tender and stiff.
Blood glucose : 130mg/dl 70-140 mg%
Blood urea : 38mg/dl 15-40 mg%
Serum creatinine : 1mg/dl 0.6-1.3 mg%
Serum uric acid : 10mg/dl
Urine pH was found to be 6.2
Questions:
1. What is the most probable diagnosis relevant to clinical history and lab findings?
2. What is normal serum uric acid level?

B.V.V. Sangha’s
12.Case Report - Minor
Urine sugar – Negative in all times
Questions:
1) Identify and interpret the given chart.

2) What is normal FBS level?
3) What is normal PPBS level?
4) Name hyperglycemic and hypoglycemic hormones.
B.V.V. Sangha’s
13.Case Report - Minor
Questions:
1) Identify the given chart.

2) Name the test which detects urine reducing sugar.
3) Mention two examples for this condition.
4) What is renal threshold for glucose?
5) What is glycosuria?
B.V.V. Sangha’s
Case Report - Minor
14. A 45 year male who was hospitalized, develop seizures and appeared weak and tired on
the first day of admission. Physical finding showed deposition of copper in the eyes as
brown pigment. Ultrasound abdomen revealed- hepatomegaly.
Liver biopsy was done and blood investigations:
Result Normal Range
Liver copper >250µg/g dry weight 20-50µg/g dry weight
Plasma ceruloplasmin <20mg/dl 20-40 mg/dl
Serum copper >40microg/dl 70-150microg/dl
Urinary copper Increased
Questions:
1. Write the probable diagnosis?

2. What is the biochemical cause?
3. Name two copper containing enzymes.
4. Name the lesion of eye in this disease.
5. Mention any two functions of this biomolecule.
Case Report - Minor

B.V.V. Sangha’s
15. A 3 month old boy was diagnosed with congenital cataract. Mother complains of
repeated crying, lethargic and irritable. On examination yellow discoloration of sclera,
urine and hepatomegaly was noted. Lab investigations
Test Reference range

value
Blood glucose 55 mg/dL 70-110 mg/dL
S. Bilirubin 9.3 mgdL 0.2-1.0 mg/dL
AST 63 mg/dL 5-45 mg/dL
ALT 54 mg/dL 5-45 mg/dL
Urine Benedicts test +++ ---
Mucic acid test +++ ---
Questions:
2. What is the enzyme defect in this condition?
3. Write the biochemical basis for cataract in this condition.
4. What other investigations are performed in his case to confirm the disease?
B.V.V. Sangha’s
Case Report - Minor
16. A 5-year old boy presented with weakness, pallor and distended abdomen. Pallor was
eliminated by intake of food. Mother gives the history of delayed milestones and was doing
poorly in the school. On examination he was afebrile, pulse rate and blood pressure was normal
and hepatomegaly. Blood investigations showed
Test Reference range
Blood glucose 50 mg/dL 70-110 mg/dL
T Cholesterol 130 mg/dL < 200 mg/dL
Triglycerides 470 mg/dL 150- 200 mg/dL
Free fatty acids 90 mg/dL 10-20 mg/dL
Blood pH 7.2 7.35-7.45
Lactate 9 mmol/L 0.4 -2 mmol/L
Uric acid 9.5 mg/dL 3-7 mg/dL
Questions
2. Write the defective enzyme in this condition.
3. Write the biochemical basis for decreased blood glucose in this condition.
4. What is the acid base status in this condition?
Case Report - Minor

B.V.V. Sangha’s
17. A 59 year old male is brought to the emergency department by a family member with
complaints of extreme confusion, disorientation and unsteady gait. The patient has been
known in the past to be a heavy drinker. He has polished rice as a major component of
his diet. On examination he is afebrile with normal blood pressure. He is extremely
disoriented & agitated. Horizontal rapid eye movement on lateral gaze is noted
bilaterally. His gait was very unsteady. Physical examination shows weight loss,
decreased body mass index, and muscle wasting. There is no hepatomegaly or
splenomegaly. CT head is negative for any tumor/ injury.
2. What is the cause for above condition?
3. Give the active form of the deficient factor responsible for the above condition.
4. Write any two reactions where this factor is required.
Case Report - Minor

B.V.V. Sangha’s
18. A 16 year old girl is hospitalized with a 10 days history of darkening and thickening
of the neck and the upper trunk region, associated with symmetrical erythema and scales on
her neck and limbs, with soreness of mouth. The lesions progressively increased in size
accompanied with itching, burning following exposure to the sun. There was history of
diarrhea. No history of any change in her behavior. There was no history of tuberculosis
treatment or similar disease in the family. Her dietary history revealed decreased food intake,
with a persistent of maize which is the basic meal in the household.
1. Name the disorder for the above case.

2. Mention the deficient biomolecule for the above disorder.
3. Give the active form of this biomolecule.
4. Write any 5 reactions requiring the active form of this biomolecule
Case Report - Minor

B.V.V. Sangha’s
19. A 20 year old man came to the medical OPD with complaints of bilateral thigh & hip pain.
There was no history of trauma or excessive exercise. On examination the patient was
afebrile & anemic. All other investigations were normal except WBC.
WBC - Increased,
Hemoglobin: 5.5g/dl.
Electrophoregram showed HbS and absence of HbA.
Quest
ions:
1. Read the electrophoregram.

2. Discuss the underlying disorder.
3. What is the biochemical cause for the underlying disorder?
4. What are the other biochemical tests that can be done to diagnosis the above disorder?
Case Report - Minor

B.V.V. Sangha’s
20. A child presented with severe vomiting, dehydration and fever. History
revealed that the child was born normal but was not growing well from the
last few months. There was progressive mental retardation.
Urine analysis revealed the presence of branched amino acids and their keto
acids in high amount.
Blood studies showed acidosis with a low bicarbonate concentration.
The urine of the patient had a smell of burnt sugar.
Questions:
a) What is is your probable diagnosis based on clinical history?
b) What is the probable defect?
c) What is the basis for these symptoms?
Case Report - Minor

B.V.V. Sangha’s
A 9 months old child brought to pediatric OPD in an irritable state. The mother said that the
child was breast fed only for 6 months and now the child is getting only formula milk.
Examination findings showed reduced weight, reduced skinfold thickness, reduced arm
muscle circumference.
Lab investigations revealed: Normal range
Blood glucose : 70 mg/dl 70- 110 mg/dl
Serum Albumin : 2.3 g/dl 3.5 -5.5 g/dl
Urea : 10 mg/dl 15- 45 mg/dl
Creatinine : 0.4 mg/dl 0.8 – 1.4 mg/dl
Serum electrolytes:
Na+ : 131 mEq/L 135-150 mEq/L
K+ : 3.2 mEq/L 3.5 -5 mEq/L
Cl- : 92 mEq/L 95-105 mEq/L
Questions:

2. What is the cause for the underlying disorder?
3. What is the treatment of choice?
4. Write the composition of WHO ORS.
Case Report - Minor

B.V.V. Sangha’s
A 18 month girl from low socio-economic income family admitted to
pediatric ward. Mother complaints that child had been eating poorly
since few days. On examination child was underweight, weak, drowsy
and pale. Her hair was dry and brittle, distended abdomen, enlarged
liver, generalized edema and angular stomatitis.
Personal history: Staple diet of the family was starchy gruel rich in
carbohydrate and low in protein.
Lab investigations
Blood report Normal range
Hemoglobin : 8 g/dl 10-14 g/dl

Serum total protein : 4.5 g/dl 6 -8 g/dl
Serum albumin : 1.8 g/dl 3.5 -5.5 g/dl
Questions:

2. What is the cause for edema?
3. Write the WHO classification of PEM?
B.V.V. Sangha’s
Case Report - Minor
11. A 18 month girl from low socio-economic income family admitted to
pediatric ward. Mother complaints that child had been eating poorly
since few days. On examination child was underweight, weak, drowsy
and pale. Her hair was dry and brittle, distended abdomen, enlarged
liver, generalized edema and angular stomatitis.
Personal history: Staple diet of the family was starchy gruel rich in
carbohydrate and low in protein.
Lab investigations
Blood report Normal range
Hemoglobin : 8 g/dl 10-14 g/dl

Serum total protein : 4.5 g/dl 6 -8 g/dl
Serum albumin : 1.8 g/dl 3.5 -5.5 g/dl
Questions:

5. What is the cause for edema?
6. Write the WHO classification of PEM?
B.V.V. Sangha’s
Case Report - Minor
12. A 9 months old child brought to pediatric OPD in an irritable state. The mother said that
the child was breast fed only for 6 months and now the child is getting only formula milk.
Examination findings showed reduced weight, reduced skinfold thickness, reduced arm
muscle circumference.
Lab investigations revealed: Normal range
Blood glucose : 70 mg/dl 70- 110 mg/dl
Serum Albumin : 2.3 g/dl 3.5 -5.5 g/dl
Urea : 10 mg/dl 15- 45 mg/dl
Creatinine : 0.4 mg/dl 0.8 – 1.4 mg/dl
Serum electrolytes:
Na+ : 131 mEq/L 135-150 mEq/L
K+ : 3.2 mEq/L 3.5 -5 mEq/L
Cl- : 92 mEq/L 95-105 mEq/L
Questions:

6. What is the cause for the underlying disorder?
7. What is the treatment of choice?
8. Write the composition of WHO ORS.

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B.V.V.

19 Sickle Cell Anemia

after few hours of discarding urine.

color on addition of ferric chloride.

1. What is your probable diagnosis based on clinical history?

2. Name the enzyme deficient.

3. Name the compound present in urine turning urine black.

1. What is the probable diagnosis?

3. A 2 week old female infant admitted to hospital. Her following

Lab investigations revealed: Result Reference range

Serum Phenyl Alanine concentration : 30 mg/dl 0-2 mg/dl

Serum Tyrosine concentration : 2 mg/dl

Urine phenolic acids : Present

FeCl3 test : Ketones present

1. What is your probable diagnosis based on clinical history?

2. Name urine phenolic acids present.

3. Why blood level of phenylalanine was elevated?

Case Report - Minor

and during night time.

Ocular examination of left eye revealed corneal epithelium ulcerated.

a) What is the deficient bio molecule in this child ?

b) Mention three vitamins.

c) What is the cause for these symptoms?

d) Write the other 2 deficiency eye manifestations of this vitamin.

e) How this disease can be prevented?

Lab investigations revealed:

Result Reference range

Vitamin D : <10 ng/ml 10-30ng/ml

Serum calcium : 7.4 mg/dl 9-11 mg%

Serum phosphorous : 2.2 mg/dl 2.5-4.5mg%

Serum ALP : 505 IU/L 70-140U/l

1. What is your probable diagnosis?

Lab investigations revealed:

Result Normal Value

Vitamin C : 0.1mg/dl 0.4-1.5mg/dl

Hemoglobin : 9.0 g/dl 10-14gm/dl

1. What is the disease he is suffering from?

2. What is the biochemical basis for the disease?

3. Give the RDA & sources for the concerned biomolecule.

4. Write other 2 functions of concerned mineral.

Peripheral blood smear showed large, abnormal and immature RBC’s

Large amounts of methylmalonic acid were detected in his urine samples.

1. What is the probable diagnosis?

2. Name the biochemical molecule deficient in the above condition.

3. Mention the sources and RDA of this biochemical molecule.

4. Mention the 2 biochemical reactions catalyzed by this biomolecule as co-enzyme.

5. How do you manage the above condition?

Case Report – Minor

Sample Reference range

Haemoglobin g/dL 8.1 13-15

Serum iron ng//dL 38 50-150

Serum Ferritin mg/L 23 50-200

TIBC mg/L 360 300 - 350

Case Report - Minor

The present biochemical findings were:

Result Reference range

Serum calcium : 4 mg/dl

1. What is the likely diagnosis?

Lab investigations revealed: