Deficiency of lysyl hydroxylase – Biochemistry MCQ

Deficiency of lysyl hydroxylase causes?
A. Alport syndrome
B. Menkes disease
C. Epidermolysis bullosa
D. Osteogenesis imperfecta

Correct answer: B. Menkes disease
pili tortiPili torti in Menkes disease – brittle and short hairs which appear twisted and flat during microscopy.

Alport syndrome is caused by mutation in the collagen genes COL4A3 and COL4A6.
Epidermolysis bullosa dystrophica is due to mutation in the collagen gene COL7A1.
Osteogenesis imperfecta is caused by mutations in COL1A1 and COL1A2.

Ref: Harper’s Illustrated Biochemistry, 27th edition, p548.
Image credits: Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. Cases J. 1, 1, 158. 2008. doi:10.1186/1757-1626-1-158. PMID 18801184 Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license