Menkes syndrome

Show Summary Details

Quick Reference

Functional copper deficiency due to a genetic defect of the transport protein required for intestinal absorption of copper and its uptake into tissues. The most obvious feature is sparse, kinky underpigmented hair, as a result of impaired cross-linking of keratin by formation of disulphide bridges, and impaired formation of melanin; hence sometimes called steely or kinky hair syndrome. Synthesis of collagen and elastin is impaired, resulting in fragile bones and commonly death as a result of rupture of the aorta at an early age. The condition is X-linked, so only males are affected.

Subjects: Medicine and Health.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.