Clinical Disorders for Defects in Collagen Synthesis

Question 1

Ehlers-Danlos type IV (faulty transcription or translation of collagen type III)

Answer 1

aortic and/or intestinal rupture

Question 2

Ehlers-Danlos type VI (faulty lysine hydroxylation)

Answer 2

increased skin elasticity, rupture of eyeball

Question 3

Ehlers-Danlos type VII (decrease in procollagen peptidase activity)

Answer 3

increased articular mobility, frequent luxation

Question 4

scurvy (lack of vitamin C, a required cofactor for prolyl hydroxylase)

Answer 4

ulceration of gums, hemorrhages

Question 5

osteogenesis imperfecta (change of 1 nucletoide in genes for collagen type I)

Answer 5

spontaneous fractures, cardiac insufficiency