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There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal.
The following tests may help diagnose the condition:
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X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones, metaphyseal widening)
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Serum copper level may be low
- Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level
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Serum ceruloplasmin level may be low
- Microscope examination of the hair may show breaks at regular intervals
- Genetic testing may show mutation in the ATP7A gene
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