Audio Qbank – HY USMLE Q #495 – Biochemistry

A 4-year-old boy is brought to the pediatrician for a follow-up examination. He has a history of fractures. A photograph of the patient is shown.

The defective substrate in this patient in this patient most likely demonstrates which of the following characteristics?

 Desmoglien binding of calcium
 Glycine to tryptophan substitution
 Glycoprotein forming disarrayed sheaths around elastin
 GTPase constitutive activity
 Impaired desmosine crosslinking