05-01-2014, 08:21 PM
A 4-year-old boy is brought to you because of easy bruising. P/E reveals soft and loose skin as well as multiple ecchymoses on the forearm and pretibial regions. Histological evaluation shows abnormally thin and irregular type 1 collagen fibrils. Biochemical evaluation reveals presence of disulfide-rich globular domains within a purified sample of mature collagen fibrils. Which of the following stages of collagen synthesis is most likely impaired in this patient?
A. Amino acid incorporation into proteins
B. Extracellular protein cleavage
C. Lysine residue hydroxylation
D. Signal peptide recognition
E. Triple helix formation
A. Amino acid incorporation into proteins
B. Extracellular protein cleavage
C. Lysine residue hydroxylation
D. Signal peptide recognition
E. Triple helix formation