Health condition
Zinc metabolism disorders
Inherited zinc disorders - led by acrodermatitis enteropathica (SLC39A4), in which zinc absorption fails - cause a distinctive rash around the mouth and extremities, diarrhoea and hair loss, all rapidly reversed by zinc supplementation.
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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Acrodermatitis enteropathica: SLC39A4 (ZIP4 transporter) variants; autosomal recessive; classically appears at weaning off breast milk
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The triad: dermatitis around body openings and on hands and feet, diarrhoea and alopecia - though incomplete forms are common
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Diagnosis: low plasma zinc (with low alkaline phosphatase as a supporting clue), response to zinc, and SLC39A4 sequencing; a related SLC30A2 defect causes zinc-deficient breast milk affecting the infant, not the mother
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Treatment is lifelong oral zinc - inexpensive and completely effective, with periodic monitoring of zinc and copper
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
Zinc sits in hundreds of enzymes, but its deficiency announces itself most visibly at the fastest-renewing surfaces: skin at the mouth, nose, eyes and nappy area erupts in sharply bordered, red, scaly - sometimes blistered - plaques that look infectious and defy antifungal and antibiotic courses until someone measures zinc. Adults with the inherited form are usually long-diagnosed, but relapses occur when supplements lapse, during pregnancy when requirements climb, or after bariatric surgery compounds the absorption defect; acquired zinc deficiency from bowel disease or restrictive diets produces an identical picture worth distinguishing genetically.
Testing, surveillance and specialist care
Management is gratifyingly simple - lifelong zinc at doses adjusted for life stage, with annual levels and copper monitoring, since high-dose zinc can deplete copper - and a metabolic or dermatology service can confirm equivocal cases with SLC39A4 sequencing, which also enables counselling for siblings and clarity in families where an infant's rash raises the transgenerational question. 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 dermatologist 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.
Frequently asked
Common questions about Zinc metabolism disorders.
Quick, plain-English answers to what people ask us most.
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What are zinc metabolism disorders?
These are conditions affecting the body's ability to properly absorb, use, or regulate zinc, an essential mineral needed for immune function, wound healing, and many other bodily processes.
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What causes zinc metabolism disorders?
Causes include rare inherited conditions affecting zinc absorption (such as acrodermatitis enteropathica), digestive conditions reducing zinc absorption, poor dietary intake, and certain medications affecting zinc levels.
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What are the symptoms of zinc deficiency or metabolism disorders?
Symptoms can include skin rashes (particularly around the mouth, hands and feet in specific inherited conditions), hair loss, diarrhoea, poor wound healing, reduced immune function, and, in children, growth problems.
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Are zinc metabolism disorders dangerous?
Untreated significant zinc deficiency, particularly in the inherited forms affecting infants, can cause serious health problems including failure to thrive and increased infection risk, so prompt diagnosis and treatment are important.
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Are zinc metabolism disorders hereditary?
Some are, such as acrodermatitis enteropathica, which is inherited in an autosomal recessive pattern; others result from acquired causes like digestive disease or dietary insufficiency rather than genetics.
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Can zinc metabolism disorders be treated?
Yes, zinc supplementation, often at a specific therapeutic dose tailored to the underlying cause, is highly effective at correcting deficiency and resolving symptoms, particularly skin changes, which often improve quickly.
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How is a zinc metabolism disorder diagnosed?
Diagnosis involves blood tests measuring zinc levels, assessment of symptoms and dietary history, and, for suspected inherited conditions, genetic testing to confirm the specific diagnosis.
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How long does treatment take to work?
Zinc supplementation often leads to noticeable improvement in skin and other symptoms within a few weeks, though ongoing supplementation is usually needed long-term for inherited conditions affecting zinc absorption.
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When should I see a specialist, and how quickly can I be seen privately?
See a dermatologist, paediatrician or metabolic specialist for suspected zinc deficiency or an inherited zinc disorder. NHS specialist referral can take time; private specialists can often see you within about two weeks.