biochem final extra stuff

Question 1

What is scurvy caused by

Answer 1

Vitamin C deficiency

Question 2

What is the result of vitamin c deficiency in scurvy

Answer 2

Without Vitamin C enzymes called hydroxylases cannot add hydroxyl groups to the proline and lysine residues in collagen.
- Prevents the formation of hydrogen bonds needed for collagen stability
- leading to weak connective tissues

Question 3

What are symtoms of scurvy

Answer 3

• Easy brusining
  -gum swelling
  -Bleeding dur to fragile blood vessels

Question 4

What is osteogenesis imperfects caused by

Answer 4

-Mutations in the COL1A1 or COL2A2 gene, which encodes type 1 collagen

Question 5

Give symptoms of osteogenesis imperfecta

Answer 5

• Blue sklera
  -Short stature
  -Skeletal deformities
  -Fragile bones

Question 6

What does osteogenesis cause in relation to connective tissue and bones

Answer 6

• Weak connectove tissues fragile bones

Question 7

What does Ehlers Danlos syndrome affect

Answer 7

• Collagen synthesis leading to weak connectove tissues

Question 8

What is Ehlers Danlos sydrome caused by

Answer 8

Mutations in the COL5A1 or COL5A2 which affects type 5 collagen

Question 9

Give symptoms of Ehlers Danlos syndrome

Answer 9

• Jont hypermobility
  -Think skin and facial features

Question 10

What does pyruvate kinase deficiency lead to and why

Answer 10

hemolytic anemia
- As the RBCs swell, become fragile and rupture
as they rely on ATP from glycolysis