CHARTS

Dept of Biochemistry
 Answer no. 1
a. Von Gierke’s disease (Type 1 glycogen storage disease)
b. Glucose-6-phosphatase
c. Enough free glucose is not released from liver into
blood.
d. Glucose-6-phosphate that accumulate is diverted into
pentose phosphate leading to increased synthesis of
ribose phosphates→ increased purine synthesis→
metabolite of purine nucleotide→ increased uric acid
e. Liver enlargement may lead to cirrhosis. Children fail
to grow and usually die in early childhood.
 Answer no. 2

1. Diabetes Mellitus
2. Increased fasting and post prandial blood
sugar. Urine sugar is positive in both fasting
and post prandial
3. Hypothyroidism
4. 70-100mg/dl
5. 90-140mg/dl
(Normal level 5 – 15 µmol/L)
 Answer no.3
a) Homocysteinuria
b) Homocysteine interacts with lysyl residue of collagen
interfering with collagen cross linking. It forms
homocysteine thiolactone, a highly reactive free radicle
which thiolates LDL particles.These particles tend to
aggregate,are endocytosed by macrophages and
increase the tendency for atherogenesis→ MI
c) Cystathione Beta Synthase deficiency.
d) Pyridoxal phosphate
e) Thrombosis, osteoperosis and mental retardation
 Answer no. 4
1. Normal
2. Normal range of pCO2 is 35-45mmHg
″ ″ HCO 3 is 22-28meq/L
″ ″ H2CO3 is 1.2mµ/L
3. Bicarbonate buffer, Phosphate buffer,Protein buffer
4. Solution which can resist changes in pH by addiion of
acid or alkali.
5. CO2 is the respiratory component and Bicarbonate is
the metabolic component
 Answer no.5
1. Metabolic alkalosis
2. Blood pH ↑ (7.48)
HCO3 ↑ (34meq/l)
3. Prolonged h/o vomitting
↓

↑loss of H+ from gastric secreations

↓

relative ↑ in HCO3 due to antacid treatment

4. 22-26mmol/L
5. 7.36-7.44
 Answer no. 6
1. Respiratory Acidosis
2. pH - ↓ 7.3
pCO2 - ↑75mmHg
3. Obstructive respiratory pathology
↓

↓ flushing of CO2 from lungs.

4. Negative log of H+ ion concentration
5. pCO2 = 38 – 42 mmHg
 Answer no. 7
1. Metabolic acidosis
2. pH - ↓ 7.30
HCO3 - ↓ 14mEq/L
3. Normal pH = 7.36 – 7.44
HCO3 = 22 – 26 mEq/L
4. Known diabetes with h/o skipped insulin treatment
↓
Diabetes ketoacidosis
↓
↑ketoacids in blood(aceto acetate β-OH butyrate acid)
↓ pH of blood
5. Hb buffer, Protein buffer,
Phosphate buffer
Bicarbonate buffer
 Answer no. 8
1. Respiratory alkalosis
2. ↑ pH – 7.8
↓ pCO2 – 28mmHg
3. Head injury
↓
↓ intracranial pressure
↓
Hyperventilation
↓
↑ flushing of CO2
↓
respiratory alkalosis
4. pH = 7.36 – 7.44
HCO3 = 22 – 26 meq/l
5. Protein buffers
Hb buffers
Phosphate buffers
Bicarbonate buffers
 Answer no.9
a) Normal
b) 70-110mg/dl
c) 90-140mg/dl
d) Starvation
e) Diabetes mellitus
 Answer no. 10

1. Normal
2. Normal T4, T3, TSH
3. T3 = 120 – 190ng/dl
T4 = 5 – 12µg/dl
TSH = 0.5 – 5µU/ml
4. Energy required by an awoken individual
during physical, emotional and digestive rest.
5. T3
 Answer no.11
1. Hypothyroidism
2. Decreased T4,T3 and Increased TSH
3. T3 = 120 – 190ng/dl
T4 = 5 - 12µg/dl
TSH = 0.5 – 5µU/ml

4. Energy required by an awoken individual

during physical, emotional and digestive rest.
5. T3
 Answer no. 12

1. Hyperthyroidism
2. Increased T3, T4 . TSH not detectable
3. Energy required by an awoken individual
during physical, emotional and digestive rest.
4. T3 = 120 – 190ng/dl
T4 = 5 – 12µg/dl
TSH = 0.5 – 5µU/ml
5. T3
 A mother sought medical help for her child,
with a complaint that diapers used for the child
stained dark. Urine on exposure became dark.
Urine Benedict’s Test positive. Ferric Chloride test
was positive. Blood Glucose oxidase test was
negative.
1. Name the disorder.
2. What is the enzyme affected?
3.What is the amino acid involved?
4. Why does the urine turn black?
 Answer no. 13

• 1. Alkaptonuria
• 2. The defective enzyme is homogentisate
oxidase
• 3. In Tyrosine metabolism.
• 4.Homogentisate accumulates in tissue and
blood, and is excreted into urine. Homogentisate
on standing gets oxidized to corresponding
quinones which polymerizes to give black/brown
colour.
 A child was brought to the hospital with
defect in growth delayed milestones. On
examination the child was found to have
cataract in the eye and
hepatomegaly(enlargement of liver) .Urine
Benedicts test was positive.
1.What is the probable diagnosis in this
case?
2. What is the enzyme involved?
3. What is the biochemical basis for cataract?
 Answer no. 14
• 1.Galactosaemia
• 2.Enzyme defect is Galactose 1 Phosphate
uridyl transferase.
• 3.Galactose accumulates and is diverted to
production of Galactitol which is implicated in
development of Cataract.
 A boy aged 5yrs was brought to the
hospital with frequent attack of giddiness.
On examination liver was found to be
enlarged. Lab investigations revealed low
glucose level and increased serum uric acid.
1.What is the likely diagnosis of this case.
2. What is the enzyme defect?
3. Explain the reason for hypoglycemia?
4. Why is uric acid level raised?
 Answer no. 15
• 1.Von Gierkes’ Disease- Hepatic Glycogen storage .
• 2..Enzyme defect-Glucose 6 phosphatase
• 3.The hypoglycemia is due to block in formation of free
glucose from Glucose 6 phosphate due to the defect in
enzyme.
• 4. Glucose 6- phosphate enhances HMP shunt.
↓
Enhances Ribose 5-phosphate formation
↓
So more Purine nucleotides formed by Salvage
pathway. These purine in turn are degraded to uric acid.
 During the period of total textile mill strike
one of the employees was brought to the
hospital in an unconscious state. Following are
the laboratory findings.
Blood Sugar 50mg%
Rothera’s test in urine is Positive
1.Give your probable diagnosis of the case.
2.Name conditions in which Rothera’s test is
positive.
3. What is the mechanism?
 Answer no. 16

• 1.Starvation leading to Keto acidosis.

• 2. Uncontrolled Diabetes Mellitus and
Starvation.
• 3. Flow of fatty acids from adipose tissue to
the liver. This leads to increased ketone body
production
 Answer no. 17
1. Acute pancreatitis
2. 28 – 100IU/L
3. 9 to 11mg/dl
4. Indicates patient has Diabetes Mellitus
 Answer no. 18
1. Nephrotic syndrome
2. Kidney
3. < 150mg/24hrs
4. Protein – 6.4 to 8.3mg/dl
Albumin – 3.5 to 5mg/dl
5. Lipoprotein formation is decreased . Low
protein level. Cholesterol level is increased
 Answer no. 19
1. Chronic renal failure
2. 15 to 45mg/dl
3. Male – 0.7 to 1.3 mg/dl
Female – 0.6 to 1.2mg/dl
4. Volume of blood/plasma completely cleared
of the substance per unit time.
5. Male – 95- 115ml/min
Female – 85-110ml/min
 Answer no. 20
1. 0.2 to 0.8mg/dl
2. Normal LFT
3. Hepatocellular damage
4. Stercobilinogen
5. Jaundice
 Answer no. 21
1. Pre hepatic jaundice
2. ↑ sed hemolysis
↓
↑sed bilirubin
3. ↑sed unconjugated bilirubin.
Liver is immature to conjugate.
4. 0.2 – 0.8mg/dl
5. In newborn, ↑sed destruction of RBCs and
immature liver, difficult to conjugate bilirubin.
 Answer no. 22
1. Hepatic jaundice
2. Total bilirubin , conjugated and unconjugated
bilirubin are elevated.
Liver enzymes →AST,ALT ↑
3. ALT
4. 6 to 8g/dl
5. Chronic liver disease , cirrhosis
 Answer no. 23
1. Obstructive jaundice/ post hepatic jaundice
2. Conjugated bilirubin is highly elevated.
ALP is increased
Hay’s test +ve
Fouchet’s test +ve
3. Presence of bile salts
4. Presence of bile pigments
5. Due to obstructive jaundice the urobilinogen
does not enter the intestines.
• The following plasma enzyme levels were
observed in a patient with chest pain. What is
your diagnosis
Serum creatine kinase - 1160
Serum CK-MB - 170
Serum Aspartate aminotransferase - 380
Serum LDH - 970
Increase in LDH1 isoenzyme fraction by 50%
1. What is your diagnosis?
2. What is the normal serum level of creatine
kinase, CK-MB, aspartate aminotransferase and
LDH?
3. 3. Why LDH1 is increased in this disease?
 ANSWER NO.24
1. Myocardial infarction
2. Normal serum level of creatine kinase –
3. Normal serum level of CK-MB –
4. Normal serum level of aspartate
aminotransferase-
5. Normal serum level of LDH-
 Name the clinical condition from the following data
• Serum Calcium - 7.9mg/dl
• Serum Phosphorus - 1.6mg/dl
• Calcium x Phosphorus product - 12.7
• Serum Alkaline phosphatase - 48K.A.units
Examination of the patient shows
Knock knees and pigeon chest deformities

1. What is your diagnosis?

2. What is the normal serum level of Calcium, Phosphorus and
Alkaline phosphatase?
3. What is the normal Calcium x Phosphorus ratio?
 Answer NO.25
1. Rickets
2. Normal serum Calcium is 9-11mg/dl
Normal serum Phosphorus is 2.5 – 4mg/dl
Normal serum Alkaline phosphatase is
Normal Calcium x phosphorus product is 40
• A 52-year-old obese female had excruciating
pain in his left first metatarsophalageal joint
after getting up from sleep. The affected joint
was hot, swollen, red and extremely tender.
He consulted the doctor and was treated with
indomethacin and the symptoms resolved
rapidly. He had abdominal pain due to renal
colic last year and cured with medications.
1. What is your diagnosis?
2. What other blood investigation would you
like to do to arrive at a diagnosis?
 ANSWER NO.26

• Gout
• Serum uric acid level
• Normal serum uric acid level
Males – 3.5 – 7 mg/dl
Females – 2.5 – 5 mg/dl
A 23-year-old woman presented to the casualty with the
complaints of colicky abdominal pain & vomiting. She
gave the history of passing urine which later changed
colour on exposure to atmosphere. Her family history
revealed that her father and her elder sister also
suffered from episodes of abdominal pain in the third
decade of their lives.
1. What is your diagnosis?
2. What investigations would you like to do to arrive at a
diagnosis?
3. Enzyme defect?
 ANSWER NO.27

• Acute intermittent porphyria

• Ehrlich’s test for porphyrinogens in urine.
• Porphobilinogen deaminase.
• A 2-year-old boy was consulted for vomiting ,
irritability and a skin rash. The boy’s mother also
note that his urine had a strong “mousy” odor.
Physical examination reveals the child has an
eczema like rash, is hyper reflexive and has
increased muscle tone. He is fair skinned in
comparison to the rest of his family.
• What is your diagnosis?
• What investigations would you like to do to arrive
at a diagnosis?
• What is the enzyme defect?
 ANSWER NO.28
• Phenylketonuria
• Blood phenylalanine, Guthrie test and ferric
chloride test.
• Phenylalanine hydroxylase
• A 42 year old man consulted with a complaints of
chronic arthritis which is worsening and affecting
his lower back, hips and knees. On examination
the sclera are noted to be brownish-blue, and his
ear cartilage is also discolored. An x-ray of the
spine reveals lumbar disc degeneration and dense
calcification. Urinalysis reported as normal
coloured urine but after standing, the urine turns
black.
• What is your diagnosis?
• What investigations would you like to do to arrive
at a diagnosis?
• What is the enzyme defect?
 ANSWER NO.29
• Alkaptonuria
• Ferric chloride test and Benedict’s test
• Homogentisate oxidase
• A 20 years female consulted a doctor for severe
vomitting, diarrhoea and giddiness for 5days.
Investigation revealed as follows
• Serum sodium – 128mEq/L
• Serum potassium – 2.8mEq/L
• Serum Chloride – 90mEq/L
1. What is your diagnosis?
2. What is the normal serum level of sodium,
Potassium and Chloride?
 ANSWER NO.30
• Hyponatremia, Hypokalemia and
Hypochloremia.
• Normal serum sodium level is 136 – 145mEq/L
• Normal serum potassium level is 3.5 – 5mEq/L
• Normal serum chloride level is 96 - 106mEq/L