BIOCHEMISTRY CLINICAL CASES

FOR 1ST YEAR MBBS

SET 2 (11 to 20 cases)

CASE 11
 1A) Sickle cell anemia (Crescent shaped red
cells and HBS on electrophoresis)

 2A) Mutation substituting valine in place of

glutamic acid at 6th position of Beta globulin
chain.

 3A)HBA- Beta chain has glutamic acid at 6th

position. More negative charge due to
presence of glutamic acid and hence moves
faster than HBS towards positively charged
electrode.
CASE 12
 a) Hepatitis
 b) Direct Bilirubin ,Indirect Bilirubin

ALP,GGT- Obstruction
Urine bile salts and bile pigments
Viral markers for Hep B/C/E
 c) Prehepatic or hemolytic

Hepatic
Post hepatic/ obstructive
 d) Chemical reaction used to measure bilirubin

levels in blood.
 Measurement of bilirubin
van den Berg reaction.

diazotized purple-red azo

Bilirubin + sulphanilic acid compound
(van den Berg’s (measured
reagent) colorimetrically)

6
Serum

methanol
Serum

(conjugated) (unconjugated)

Source: Modified from https://www.studyblue.com/notes/note/n/gi-week-2/deck/9959003

7
CASE 13
 1) Multiple myeloma
 2) Chromosomal translocation leading to

malignant proliferation of plasma cells derived

from a single clone
 3) Light chains of immunoglobulins that are

synthesized in excess and having property of

coagulation at 40-60 deg
 4)Heat coagulation test
 5)Malignant monoclonal gammopathy

characterised by high levels of macroglobulin IgM

CASE 14
 1) Homocystinuria
 2) Cystathione beta synthase deficiency
 3) B12, Pyridoxine
 4) Increased Homocysteine levels increase the

tendency of atherosclerosis and cardiac

complications. Treating with Pyridoxine, vit
B12 and folic acid will keep the homocysteine
levels in blood normal and there by reduces
risk of cardiac diseases.
 5) All aminoacidurias like Homocystinuria,

Phenylketonuria & Alkaptonuria.

 Homocystinurias
• Defect in the metabolism of homocysteine (HC)

2
5

3
CASE 15
 1) Acute gouty arthritis: Acute inflammation as a
result of deposition of urate crystals in synovial fluid
of joints. It is almost always associated with
hyperuricemia. It can be primary (genetic) or
secondary (increased production or decreased
excretion of uric acid)
 2) Alcohol consumption leads to accumulation of
Lactic acid which interferes with renal tubular
secretion of uric acid and precipitates acute attack.
 3) Increased PRPP activity, lesch Nyhan ,Von gierkes
Leukemia, tumour lysis, renal failure..
 4)Allopurinol is competetive inhibitor of xanthine
oxidase. Decreases uric acid level.
CASE 16
 1A) Myocardial infarction
 2A) CKMB, AST,LDH, Troponin I and T
 3A) Normal Total cholesterol < 200mg/dl
 4A)HDL fraction of lipoproteins is called as

good cholesterol as it transports cholestreol

from peripheral tissues to liver to be excreted
as bile salts.
 5A) Reduction in saturated and trans fats and

consumption of unsaturated fatty acids,

intake of dietary fibre and anti oxidants (vit
C,E,carotene)
CASE 17
 1A) Acute pancreatitis
 2A) Plasma amylase: 50-120 IU/L

Plasma Lipase: 50-175 IU/L

Urinary amylase: < 375 IU/L
 3A) Damage to pancreatic acinar cells by

alcohol due to release of intracellular

proenzymes & lysosomal hydrolases acinar
cell injury and release of pancreatic amylase
and lipase into blood stream.
 4A) Serum amylase increases within 5-12hrs

and returns to normal within 2-4 days

CASE 18
 1A) Type I DM/ Juvenile DM
 2A) Insulin dependant DM
 3A) GLUT means Glucose Transporters
 4A) Normal fasting blood sugar is
70-110mg/dl
CASE 19
 1A) Hyperthyroidism
 2A) Thyroid hormone assay: T3,T4,TSH
Free T3,T4
Thyroid antibodies
 3A) T3: 120-190ng/dl
T4: 5-12 mcg/dl
TSH: 0.5-5 micro U/L

 4A) Thyroid gland takes up iodide by means of

Na+k+ATPase dependant Iodine transporter. The iodine
taken up is oxidised to higher valency state by
Thyroperoxidase enzyme. This active iodide is coupled
to 3’5’ sites of benzene ring of tyrosine in thyroglobulin
and cannot leave the cell-Iodine Trap
CASE 20
 1A) Hypothyroidism
 2A) T3,T4,TSH
 3A) 150-200micrograms/ day
Thank you.