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 https://www.ncbi.nlm.nih.gov/pubmed/18801184.  Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license.

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