Biochemistry 🧪

Question 1

Beri beri

Answer 1

Carb rich diet
Thiamine B1 deficit

Question 2

Pellegra

Answer 2

3Ds
Dermatitis
Dementia
Diarrhea

Niacin B3 deficit

Question 3

Wernicke Korsakoff Syndrome

Answer 3

Severe thiamine B1 deficit

Question 4

Pernicious Anemia

Answer 4

Malabsorption&raquo_space;> B12 deficit
Loss of intrinsic factor

Question 5

Xeroopthalmia

Answer 5

Dryness of cornea and conjunctiva
Due to over keratinization of cornea

Question 6

Itchy burning eye ,bloodshot eyes
Angular stomatitis .chieolosis
Seborrhea ( dandruff)
Photophobia
Vit Deficit?
Derive from milk/egg/cereal / meat

Answer 6

Riboflavin B2
Seen in alcoholic

Question 7

NAD+ / NADP+ derived from which vitamin ?

Answer 7

B3 Niacin
B3 Act as cofactor for redox reaction

Question 8

Niacin derived from which aminoacid ?

Answer 8

Tryptophan
Also B1/ 2/6 required for Niacin synthesis

Question 9

Which vitamin derivative can treat and lower hyper cholesterolemia?

Answer 9

Nicotine Acid
B3- Nicotinic acid + nictotinamide

Question 10

Penicillimine ( used to treat for RA and Cystinuria ) can lead to which Vit deficit ?
Hint : Vit is important cofactor for GABA synthesis

Answer 10

B6 - PLP ( active form )
Insomnia
Muscular control
Leg cramps
Dermatitis
Slow learning
Sluggish

Question 11

B12 and folate deficit lead to anemia . Why?

Answer 11

Folate trap
B12 cofactor for methionine synthesis from homocysteine
Cannot synthesis nucleotides (DNA) for Hgb
NYs- purine and thymidine

Question 12

Complication of homocystinuria

Answer 12

CVS diseases&raquo_space; neg impact on collagen and elastin for arteries /bones / joints /etc
Thrombosis

Question 13

Enz def in fructosuria is ?
Elevated enz?

Answer 13

Deficiency - Frucktose kinase
Elevated - fructose (urine)

Question 14

Hereditary fructose intolerance?
Enz def? Enz elevated ?

Answer 14

Enz- Aldose B
Elevated - fructose 6 -P

Question 15

Def of Glucose-1-Phosphate
Diet : Avoid lactose
Infant can’t tolerance breastfeeding (milk)
Got jaundice / Hepatomegaly
Ds? What complication ?

Answer 15

Galactosemia
E. coli sepsis

Question 16

Cataract
No smile
Can’t track object
Typical of what metabolic disorder ?

Answer 16

Galactose kinase
Increase galactose in Blood /urine

Question 17

Mucopplysarcoidosis subtype
Hunter Vs Hurler

Answer 17

Hunter
- less severe
-X linked recessive

Hurler
-More severe
-impaired vision
Cloud cornea
Gargoyle facie
AR

Question 18

Problems with amino acid reabsorption
COLA

Answer 18

COLA(Cystine ,ornithine,Lysine,Arginine)
Cystinuria
Obstruction of urine flow , kidney stones ,
Rx: alkalinize urine

Question 19

Function of lysosome

Answer 19

“Cell trash can”
-thrive at low ph
-storage of digestive Enz - lipase/protease
Lysosomal storage disorder - accumulation of toxic metabolites

Question 20

Tay Zach

Answer 20

Lysosomal SD
JEW
Cherry Red macula
Onion Skin

Question 21

Metachromatic leukodystrophy

Answer 21

Demyelination (CNS+PNS)
Ataxia /Memory loss
AR

Question 22

Nienann Pick

Answer 22

Macrophage *foamy cell
+ lipid +++

Question 23

Fabry disease

Answer 23

Triad - hypoanhydrosis / P.Neuropathy / Angiokeratoses
Lysosomal SD(GLA-gene)

Question 24

Gaucher Ds

Answer 24

Lysosomal SD
*tissue paper cell
A vascular necrosis
Cytopenia

Question 25

Clinical vignant of Vitamins B1 ,B3,B9,B12

Answer 25

B1-Thiamine - wet/Dry beri Beri / WE/ KSK confabulation /CNS features B3 a Niacin ( Pellegra) - 3D- Dementia/Dermatitis /Deiarrhea /Hartnup ds/ cause - Renal ds—> Tryptophan reabsorption B9(Folate )- the safest drug to prescribe during pregnancy / Neural tube defects / absorb- Jejunum/co-factor of NTs formation -THF B12- chronic deficiency(alcoholic) / Megaloblastic anemia / hyper segmented Neut /SACD /Pernicious Anemia

Question 26

Pernicious Anemia

Answer 26

IgA—> IF —> malabsorption of B12 deficiency

Question 27

Tea and Toast diet Seaman disease Corkscrew hair Harmathroses

Answer 27

Vit C Scurvy Important for collagen synthesis * triple helix collagen linkage

Question 28

What vitamin treat APML ?

Answer 28

ATRA all trans-retinoic acid

Question 29

Bitot spot

Answer 29

Vitamin A deficiency Night blindness - photoreceptor *Opsin protein

Question 30

Active form of vitamin D

Answer 30

1,25 OH D3 (activated in kidney)—> absorb Ca2*

Question 31

What molecules has high affinity with cyanide and cause toxicity ?

Answer 31

Ferric(Fe3+) + Hgb —> methemoglobin Destroy RBC - cellular respiration /Cytochrome C - lactate acidosis ( decrease O2 to tissue)