Understanding Lab Tests for Menkes Disease
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Menkes disease is a rare genetic disorder that affects copper metabolism in the body. This X-linked recessive condition prevents the body from properly transporting and utilizing copper, leading to severe copper deficiency that can affect multiple organ systems including the brain, connective tissues, and blood vessels.
Top Recommended Test
Copper, Serum or Plasma
This test directly measures copper levels in the blood. Menkes disease causes significant copper deficiency as the body cannot properly absorb and distribute copper from the intestines to tissues that need it, resulting in characteristically low serum copper levels.
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How Blood Tests Help Diagnose Menkes Disease
While genetic testing provides the definitive diagnosis, blood tests measuring copper levels and related proteins are essential diagnostic tools for Menkes disease. These tests can reveal the characteristic copper deficiency patterns that occur when the body cannot properly transport copper from the intestines to other tissues.
Other Relevant Tests
Ceruloplasmin
This test measures ceruloplasmin, a protein that transports copper throughout the body. In Menkes disease, ceruloplasmin levels are typically low because the genetic defect prevents proper copper transport, making this protein unable to function normally in these patients.
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Understanding the Results
In Menkes disease, both copper and ceruloplasmin levels are typically decreased compared to normal ranges. These findings, combined with clinical symptoms and family history, help healthcare providers make an accurate diagnosis and determine appropriate treatment strategies.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment. Early diagnosis and intervention are crucial for managing Menkes disease.
