biochem final extra stuff Flashcards
What is scurvy caused by
Vitamin C deficiency
What is the result of vitamin c deficiency in scurvy
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
What are symtoms of scurvy
- Easy brusining
-gum swelling
-Bleeding dur to fragile blood vessels
What is osteogenesis imperfects caused by
-Mutations in the COL1A1 or COL2A2 gene, which encodes type 1 collagen
Give symptoms of osteogenesis imperfecta
- Blue sklera
-Short stature
-Skeletal deformities
-Fragile bones
What does osteogenesis cause in relation to connective tissue and bones
- Weak connectove tissues fragile bones
What does Ehlers Danlos syndrome affect
- Collagen synthesis leading to weak connectove tissues
What is Ehlers Danlos sydrome caused by
Mutations in the COL5A1 or COL5A2 which affects type 5 collagen
Give symptoms of Ehlers Danlos syndrome
- Jont hypermobility
-Think skin and facial features
What does pyruvate kinase deficiency lead to and why
hemolytic anemia
- As the RBCs swell, become fragile and rupture
as they rely on ATP from glycolysis