Pharmacological advances in Menkes disease

By Dr Nicola Davies

Menkes disease is a rare, X-linked genetic disorder caused by mutations in the ATP7A gene, which impair copper transport within the body. If left untreated, this defect leads to critically low copper levels in multiple tissues, resulting in severe neurodevelopmental impairment, connective tissue abnormalities, seizures, and typically early childhood mortality. Since neurological damage begins soon after birth, early diagnosis and prompt intervention are essential for improving clinical outcomes.

FDA approval of Zycubo (copper histidinate)