Enzyme deficient in Marfan’s syndrome is:
|A||Cystathionine B synthetase|
|B||Elastase Type II|
|E||None of the above|
I. Lysyl oxidase : collagen fibres are further established by the formation of covalent cross linked through the action of Lysyl oxidase, which is a “copper dependent enzyme
II. Marfan Syndrome: is due to mutations in the gene for fibrillin a protein present in microfibrils.
III. Ehlers-Danlos Syndrome: Type VI → due to mutation of gene coding Lysyl Hydroxylase.
IV. Menkes’ disease (Kinky or steely hair disease): is due to the gene for a copper — Binding “P-Type ATPase” — (Lab. Findings = serum Cu+ .↓serum ceruloplasmin, ↓Liver Cu.)
V. Menkes’ disease : is due to mutation of gene coding — Lysyl hydroxylase.
VI. Menke’s disease: due to Lysyl oxidase deficiency due to copper metabolism.