biochem final extra stuff Flashcards

1
Q

What is scurvy caused by

A

Vitamin C deficiency

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2
Q

What is the result of vitamin c deficiency in scurvy

A

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

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3
Q

What are symtoms of scurvy

A
  • Easy brusining
    -gum swelling
    -Bleeding dur to fragile blood vessels
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4
Q

What is osteogenesis imperfects caused by

A

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

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5
Q

Give symptoms of osteogenesis imperfecta

A
  • Blue sklera
    -Short stature
    -Skeletal deformities
    -Fragile bones
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6
Q

What does osteogenesis cause in relation to connective tissue and bones

A
  • Weak connectove tissues fragile bones
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7
Q

What does Ehlers Danlos syndrome affect

A
  • Collagen synthesis leading to weak connectove tissues
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8
Q

What is Ehlers Danlos sydrome caused by

A

Mutations in the COL5A1 or COL5A2 which affects type 5 collagen

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9
Q

Give symptoms of Ehlers Danlos syndrome

A
  • Jont hypermobility
    -Think skin and facial features
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10
Q

What does pyruvate kinase deficiency lead to and why

A

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

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