Comprehensive Clinical Review: Menkes Disease – Pathophysiology, Diagnosis, Management, and Emerging Therapeutics
1. Genetic Basis and Pathophysiology Menkes disease (MD; OMIM #309400) is an X-linked recessive disorder caused by pathogenic variants in the ATP7A gene (chromosome Xq21.1), which encodes a P-type ATPase copper-transporting protein essential for dietary copper absorption and systemic copper distribution. This transporter is critical for: Loss-of-function mutations (nonsense, frameshift, splice-site, missense affecting catalytic domains)…
