Health condition
Menkes disease and copper disorders
The inherited copper disorders span Menkes disease and its milder allele occipital horn syndrome (ATP7A) through Wilson's disease (ATP7B) to rarer entities like MEDNIK syndrome - copper sitting too low or too high, each with distinct adult relevance.
Why trust this guide
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Editorial team
Written by our editorial team from the UK sources listed on each page.
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Sourced from guidance
Checked against current NHS and UK specialist society guidance at the time of review.
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Current for 2026
Reviewed on 2026-09-27 with the next review scheduled for 2027-09-27.
Key facts
The essentials at a glance.
Which gene and test confirm it, who should be tested in the family, and which specialist to see.
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Menkes disease (ATP7A, X-linked): severe infantile copper deficiency; milder ATP7A variants cause occipital horn syndrome and an adult-relevant distal motor neuropathy
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Wilson's disease (ATP7B, recessive): copper overload affecting liver and brain - the most treatable of the group
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Diagnosis combines serum copper and caeruloplasmin (low in both Menkes and Wilson's - interpretation needs care), urinary copper and genetic testing
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Female carriers of ATP7A variants and family members of affected individuals warrant genetic counselling
Understanding the condition
What it is and what happens next.
What causes it, how it is confirmed, and the testing and specialist routes available in the UK.
What it is and how it presents
Copper is essential in trace amounts and toxic beyond them, and the body manages this with two paired transporter genes: ATP7A loads copper into the circulation from the gut, ATP7B excretes the excess through bile. Classic Menkes disease - profound infantile deficiency with characteristic kinky hair - remains a paediatric emergency treated with copper histidine, but the gene's milder spectrum reaches adult clinics: occipital horn syndrome's connective tissue laxity and bony exostoses, and an ATP7A-related distal motor neuropathy that masquerades as Charcot-Marie-Tooth disease.
Testing, surveillance and specialist care
The laboratory trap is worth knowing - caeruloplasmin runs low in both the deficiency and overload diseases, so no single copper test suffices without the full panel and, increasingly, gene sequencing to settle atypical cases. Families touched by any ATP7A condition benefit from genetics review, since X-linked inheritance puts carrier mothers' future sons at 50% risk, with prenatal options available; Wilson's families follow their own well-established cascade pathway. NHS clinical genetics services carry some of the longest waits in the health service, often many months for a first appointment, whereas private genetic testing and a specialist review can typically be arranged within around two weeks.
Seeing a specialist
Who to see, and how quickly you can be seen.
The specialist for this condition is usually a metabolic physician or neurologist with clinical genetics. Your GP can refer you on the NHS, or you can arrange a private consultation directly.
A quiet reminder
This guide is for information, not medical advice.
Your GP knows your history and can tell you which parts apply to you. If in doubt, see them - and seek urgent care for any emergency symptoms.