Biochemistry

Question 1

normal serum uric acid level

in male and female

Answer 1

3-7 mg/dl in males
2-6 mg/dl in females

Question 2

Normal urinary uric acid

Answer 2

0.3-0.7 g/day

Question 3

associated with self mutilation

Answer 3

Lesch Nyhan

Question 4

What is self mutilation

Answer 4

biting lips and fingers

Question 5

the symptoms of Lesch Nyhan syndrome

Answer 5

Motor dysfunction
cognitive disorders
self mutilation

Question 6

HGPRT Deficiency which syndrome?

Answer 6

Lesch Nyhan

Question 7

Glucose 6 phosphatase Def. associated with which

Answer 7

Von Gierkes

G gierke G glucose 6 phosphates

Question 8

intracellular tapping of phosphate occur in?

Answer 8

Hereditary Fructose intolerance

Question 9

depletion of ATP occur in?

Answer 9

Hereditary Fructose Intolerance

Question 10

treatment of gout in diet

Answer 10

Restriction of Nucleoprotein rich diet: meat, liver kidneys
Adequate fluid intake
decrease alcohol intake because alcohol is diuretic caused dehydration and formation of crystals and it also decrease excretion of uric acid in urin

Question 11

drugs of gout

Answer 11

1. Anti.inflammatory drugs (colchicine, steroids, non steroids)
2. Uricosuric drugs
3. Alkalization of urine
4. allopurinol zyloric

Urosolivine contain colchicine, uricosuric agent, alklizing agent

Question 12

is major storage form of vit D in the liver & the predominant form in plasma

Answer 12

25-OH vit D

Question 13

the active form of vit D

Answer 13

1, 25-diOH-vit D

called “Calcitriol” which acts as a steroid hormone

Question 14

Calcitriol is also degraded (inactivated) by other kidney enzyme

Answer 14

24 hydroxylase

Question 15

daily excretion of ammonia

Answer 15

0.5-0.8 gm/day

Question 16

causes sever combined immunodeficiency (SCID)

Answer 16

Adenosine deaminase (ADA) Deficiency

Question 17

tretment of ADA deficiency

Answer 17

• Bone marrow transplantation
• enzyme replacement therapy
• gene therapy

Question 18

hypouricemia due to

Answer 18

1. Xanthine oxidase deficiency
2. ADA def.
3. purine nucleotide phosphorylase def.

Question 19

results of ADA defeciency

Answer 19

1. accumulation of Adenosine results in increase ATP and dATP
2. increase dATP results in inhibition of ribonucleotide reductase so inhibit DNA synthesis
3. affect lymphocytes results in impaired T cells and B cells function results in severe combined immunodeficiency

Question 20

Causes of alkaline urine (pH > 7.0):

Answer 20

✓ Infection with a urea-splitting organism such as Proteus,
✓ Diet (vegetarian),
✓ Diuretic therapy,
✓ Vomiting,
✓ Gastric suction,
✓ Alkali therapy.

Question 21

causes of acidic urine

Answer 21

1. metabolic acidosis
2. ingestion of large amount of meat

Question 22

causes of polyuria

Answer 22

physio: high fluid intake, protein intake, preganancy or lactation
patho: diabetes mellitus or insipidus

Question 23

causes of oliguria

Answer 23

physio: low fluid intake, hot weather
patho: pre renal: diarrhea, vomiting, hemmorhage
renal: inflammation, tumor
post renal: obstruction (stones, tumors)

Question 24

causes of albumnuria

Answer 24

✓ Pregnancy
✓ Pre-renal: congestive heart failure
✓ Renal disease: pyelonephritis, glomerulonephritis, nephrotic syndrome
✓ Post-renal: Inflammation or cancer of urinary bladder

Question 25

Increased urine specific gravity may be due to:

Answer 25

• Dehydration
• Glucosuria as in DM
• Proteinuria

Question 26

Decreased urine specific gravity may be due to:

Answer 26

• Diabetes insipidus
• Drinking too much fluid
• Kidney failure which results in a fixed specific gravity between 1.007 and 1.010

Question 27

specific gravity of urine

Answer 27

1.005-1.030

Question 28

Albumin odour of urine

Answer 28

fishy

Question 29

Ketonuria odour of urine

Answer 29

Acetone odour

Question 30

pus odour in urine

Answer 30

putrid odour

Question 31

Phenylketonuria odor of urine

Answer 31

mousey smell of baby’s urine

Question 32

Maple Syrup Urine Disease

Answer 32

Mable syrup odor

Question 33

uricosuric drugs