Menkes Disease

Menkes disease is a rare, X-linked recessive neurodegenerative disorder of copper metabolism caused by pathogenic variants in the *ATP7A* gene This genetic defect disrupts intestinal copper absorption and intercellular transport, causing profound intracellular copper deficiency across the central nervous system, connective tissues, and vasculature, primarily affecting infant males Patients typically present in early infancy with failure to thrive, progressive neurodevelopmental regression, hypot...

Menkes disease is a rare, X-linked recessive neurodegenerative disorder of copper metabolism caused by pathogenic variants in the *ATP7A* gene Secondary to impaired activity of copper-dependent enzymes, the disease leads to severe cerebral atrophy, subdural hematomas, and arterial tortuosity, typically resulting in early childhood mortality without early therapeutic intervention

This genetic defect disrupts intestinal copper absorption and intercellular transport, causing profound intracellular copper deficiency across the central nervous system, connective tissues, and vasculature, primarily affecting infant males Patients typically present in early infancy with failure to thrive, progressive neurodevelopmental regression, hypotonia, intractable seizures, autonomic instability, and distinctive sparse, fragile, "steely" or kinky hair

This genetic defect disrupts intestinal copper absorption and intercellular transport, causing profound intracellular copper deficiency across the central nervous system, connective tissues, and vasculature, primarily affecting infant males

Patients typically present in early infancy with failure to thrive, progressive neurodevelopmental regression, hypotonia, intractable seizures, autonomic instability, and distinctive sparse, fragile, "steely" or kinky hair