Menkes disease is a rare X-linked recessive genetic disorder that severely disrupts copper metabolism in the body. It is caused by mutations in the ATP7A gene that prevent proper copper transport from the intestines to tissues, resulting in severe copper deficiency affecting the brain, connective tissues, and blood vessels. The Copper, Serum or Plasma test is the most important test for diagnosis as it reveals the characteristic low copper levels that define this condition.
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Menkes disease is caused by mutations in the ATP7A gene located on the X chromosome. This gene is responsible for producing a protein that transports copper from the intestines to the bloodstream and other tissues throughout the body. When this gene is defective, copper gets trapped in the intestinal lining and cannot reach vital organs like the brain, bones, and blood vessels that need it to function properly. Since Menkes disease is X-linked recessive, it primarily affects males, while females who carry one copy of the mutated gene are typically unaffected carriers.
The Copper, Serum or Plasma test is the most important test for Menkes disease because it directly measures copper levels in the blood and reveals the characteristic severe copper deficiency that defines this condition. In Menkes disease, serum copper levels are markedly decreased compared to normal ranges. The Ceruloplasmin test is also essential as it measures the copper-carrying protein in your blood, which is typically very low in people with Menkes disease. While genetic testing of the ATP7A gene provides the definitive diagnosis, these blood tests are critical screening tools that can identify the condition early, especially when combined with clinical symptoms like unusual kinky hair, developmental delays, and low body temperature.
You should get tested if your infant or young child shows characteristic signs like sparse, kinky, or steel-wool-textured hair, developmental delays, low muscle tone, seizures, or failure to thrive. Testing is especially important if there is a family history of Menkes disease or unexplained infant deaths in male relatives, since the condition is inherited. Early diagnosis in the first few weeks of life is critical because copper replacement therapy is most effective when started before severe neurological damage occurs. If your child has been hospitalized for unexplained seizures, feeding difficulties, or temperature regulation problems, ask your doctor about copper metabolism testing.
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What this means
Your testosterone levels are slightly below the optimal range. While this is not necessarily cause for concern, it may contribute to occasional fatigue, reduced motivation, or lower muscle mass over time.
Recommended actions
Increase resistance or strength training
Prioritize 7–8 hours of quality sleep per night, try to reduce stress
Include more zinc- and magnesium-rich foods (like shellfish, beef, pumpkin seeds, spinach)
Consider retesting in 3–6 months
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