Protein

Question 1

Mnemonic for 1st 5 of 28 types of collagen

Answer 1

1 skin
2 connective tissue
3 arteries and other cvs
4 basement membrane of glomeruli(Alport syndrome , hematuria and endstage renal disorder)

7 junction of epidermis and dermis(epidermolysis bulbosa, blisters)

Question 2

Menkes disease and collagen

Answer 2

Glycosylation via Lysyl oxidase (in presence of Cu+2 )of collagen decreases

Question 3

Transthyretin

Answer 3

In transport of thyroxine and retinol binding protein
Aka pre albumin
Blood and CSF

Question 4

Ceruloplasmin

Answer 4

6 Cu binding protein
From liver
For iron transport also as it has ferro oxidase activity

Question 5

Menkes disease

Answer 5

Protein ATP- 7A defective
Cu transport decreases. Cu decreases in blood and tissue
Brain affected, grey kinky hair
X linked so males are …
Disease in infancy and death in 3 years
All oxidases including lysyl oxidase affected

Question 6

Wilson’s disease

Answer 6

ATP 7B protein of liver is the defect
Cu into bile transport decreases 
Adds Cu to ceruloplasmin
So ceruloplasmin is not properly formed and in low levels 
Cu deposits in liver, kidney , brain and RBC
Cu increases in urine and blood
Autosomal recessive 
    Hepatosplenomegaly
    Haemolytic anaemia 
    Seizures
    Sunflower cataract 
    Kayser Fleisher rich due to deposits in decement membrane

Question 7

Selenium deficiency

Answer 7

Keshan disease

Question 8

Zinc deficiency

Answer 8

Acrodermatitis enterohepatica