Home Assignment---1/Biochemistry/2nd Sem/1st Prof.

MBBS/Batch:2023—2024

Questions carrying 15 Marks

Q.1 A 10 month old infant with small head and having tremor of extremities was admitted in
paediatric ward.On examination,he had blue eyes and hypopigmented patches all over the
body.Parents also complained of mousy odour of his urine.Lab report showed the presence of
phenylalanine in urine.

a)What is the provisional diagnosis?Justify your answer.b)Explain the biochemical basis of the
disorder.c)Which biochemical investigations will help to establish the diagnosis?d)What advice will
you give to the parents to manage this condition?.....................3+5+4+3=15

Q.2 A 42 years old male presented to the OPD with the chief complaints of chest pain and shortness
of breath on little exertion.His personal history revealed that he lost his father and elder brother
have a history of treatment for due to coronary artery disease at around 40 years age.O/E,his blood
pressure was within normal limits.The cardiovascular and other system examinations were
normal.Multiple nodular xanthomas were found over his elbow,fingers,tendoachilis and buttocks.

The lab works were as follows:

Plasma Glucose:108 mg/d L Serum Cholesterol:430 mg/d L Se TG:80 mg/d L Se LDL:380 mg/d L Se
HDL:29 mg/d L

a)What is your provisional diagnosis? Justify.

b)Explain the biochemical basis.

c)Outline the treatment plan of this disorder………………….3+8+4=15

Q.3 A 18 year old girl from a rural middle class family was brought to the psychiatrist with the chief
complaints of abnormal behavior,poor sleep,crying spells,constipation in the past 2 months and
intermittent pain in abdomen.O/E,she had depression,all parameters were normal including
ultrasonography of whole abdomen.Urine sample collected for lab investigations turned dark on
standing.Urine porphobillinogen test was positive.

a)What is your provisional diagnosis?Justify.

b)Explain the biochemical basis.

c)What investigations are required to establish the diagnosis?

d)Outline a management plan of this disorder…………………………………..3+6+3+3=15

Questions carrying 10 Marks

Q.1 Explain the role of VitE as antioxidant & VitC in collagen synthesis.What do you mean by non-
collagen collagen?.........................5+3+2=10
Q.2 Classify phospholipids.Mention the functions of phospholipids.Premature baby tends to develop
respiratory distress syndrome-----Why?.......................4+4+2=10

Q.3 Discuss regulation of iron absorption with flow diagrams.Point out the criterias to establish the
diagnosis of iron deficiency anemia………………….8+2=10

Q.4 DNA-HISTONE INTERACTION PLAYS A VITAL ROLE IN THE ORGANIZATION OF DNA

STRUCTURE:Justify.DNA is more stable than RNA….Why?Add a note on FISH…..5+2+3=10

Q.5 What do you mean by GAGs?Mention their location and functions.Establish the interrelationship
of GAGs with ageing……………3+5+2=10