Question 1

What is Acrodermatitis Enteropathica?

Accepted Answer

Acrodermatitis Enteropathica is a rare inherited disorder that prevents the body from properly absorbing zinc from the intestines. It is caused by mutations in the SLC39A4 gene, which encodes the zinc transporter protein essential for intestinal zinc absorption. The Zinc Blood Test is the most important test for diagnosis because it directly measures serum zinc levels and confirms the characteristic zinc deficiency.

Question 2

What causes Acrodermatitis Enteropathica?

Accepted Answer

Acrodermatitis Enteropathica is caused by mutations in the SLC39A4 gene, which provides instructions for making a zinc transporter protein in the intestines. When this gene is mutated, the body cannot absorb zinc from food properly, leading to severe zinc deficiency. This genetic disorder is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene for a child to develop the condition.

Question 3

What is the best test for Acrodermatitis Enteropathica?

Accepted Answer

The Zinc Blood Test is the most important test for Acrodermatitis Enteropathica because it directly measures serum zinc levels and reveals the characteristic zinc deficiency. Individuals with this condition typically show significantly low zinc levels (below 50 mcg/dL), which, combined with classic symptoms like skin rashes around body openings, diarrhea, and hair loss, confirms the diagnosis. This single blood test is essential because it quickly identifies the zinc deficiency that defines this genetic disorder and helps healthcare providers initiate life-saving zinc supplementation therapy.

Question 4

When should I get tested for Acrodermatitis Enteropathica?

Accepted Answer

You should get tested if you or your child develops characteristic skin rashes around the mouth, eyes, or diaper area that do not respond to typical treatments, especially when accompanied by persistent diarrhea and hair loss. Testing is particularly important for infants who develop these symptoms shortly after weaning from breast milk, as maternal milk can provide some zinc protection. You should also consider testing if there is a family history of this rare genetic disorder or if symptoms worsen despite standard dermatological treatments.

Question 5

What are the symptoms of Acrodermatitis Enteropathica?

Accepted Answer

Symptoms typically appear in infancy during weaning and include distinctive red, scaly skin rashes around body openings like the mouth, eyes, genitals, and anus. You might notice chronic diarrhea, hair loss or thinning on the scalp and eyebrows, nail abnormalities, delayed wound healing, and increased susceptibility to infections. Infants may also show irritability, loss of appetite, and failure to thrive. Without treatment, symptoms progressively worsen and can become life-threatening.

Question 6

Who is at risk for Acrodermatitis Enteropathica?

Accepted Answer

Children born to parents who both carry a mutated copy of the SLC39A4 gene are at highest risk, as this condition follows an autosomal recessive inheritance pattern. The disorder affects males and females equally and occurs across all ethnic groups, though it is extremely rare with an estimated incidence of 1 in 500,000 births. Infants typically show symptoms within the first few months of life, especially after being weaned from breast milk, which naturally contains more bioavailable zinc than formula or solid foods.

Question 7

What happens if Acrodermatitis Enteropathica is left untreated?

Accepted Answer

If left untreated, Acrodermatitis Enteropathica can lead to severe complications including life-threatening infections due to compromised immune function, significant growth retardation and developmental delays, corneal damage and vision problems, and severe malnutrition. The skin lesions can become infected and spread, causing painful secondary bacterial or fungal infections. Before zinc supplementation therapy was available, this condition was often fatal in early childhood, making early diagnosis and treatment absolutely critical.

Question 8

Can Acrodermatitis Enteropathica be diagnosed with a blood test?

Accepted Answer

Yes, Acrodermatitis Enteropathica can be diagnosed with a blood test that measures serum zinc levels. The Zinc Blood Test shows characteristically low zinc levels (typically below 50 mcg/dL) in affected individuals, which confirms the diagnosis when combined with classic symptoms. Blood tests may also reveal low alkaline phosphatase levels, as this enzyme requires zinc to function properly. Genetic testing of the SLC39A4 gene can provide additional confirmation but is not always necessary when zinc levels and symptoms clearly indicate the condition.

Question 9

How is Acrodermatitis Enteropathica treated?

Accepted Answer

Acrodermatitis Enteropathica is treated with lifelong oral zinc supplementation, typically zinc sulfate or zinc gluconate at doses of 1-3 mg/kg per day. Symptoms usually improve dramatically within days to weeks of starting zinc therapy, with skin lesions healing, diarrhea resolving, and hair regrowth beginning. Treatment must continue for life because the underlying genetic defect preventing zinc absorption cannot be corrected. Regular monitoring of zinc levels ensures the supplementation dose remains adequate as children grow and body requirements change.

Question 10

How can I prevent Acrodermatitis Enteropathica?

Accepted Answer

Acrodermatitis Enteropathica cannot be prevented because it is an inherited genetic disorder present from birth. However, if you have a family history of the condition or are a known carrier of the SLC39A4 gene mutation, genetic counseling can help you understand the risks of passing it to your children. Early recognition and diagnosis are crucial, so being aware of symptoms can lead to prompt treatment. For families with known carriers, prenatal genetic testing may be available to identify affected pregnancies.

Question 11

What can I do at home for Acrodermatitis Enteropathica?

Accepted Answer

At home, strict adherence to prescribed zinc supplementation is essential, as missing doses can cause symptoms to return quickly. Keep skin lesions clean and moisturized to prevent secondary infections while the zinc therapy takes effect. Breastfeeding infants with this condition may provide better zinc absorption than formula, so continuing breastfeeding when possible can be beneficial. Monitor for signs of improvement or worsening symptoms and maintain regular follow-up appointments to ensure zinc levels remain in the optimal range throughout life.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
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                When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
            If you’re not sure which test to get, we can lend a hand in finding the right option.
            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Acrodermatitis Enteropathica Blood Test

What is Acrodermatitis Enteropathica?

What causes Acrodermatitis Enteropathica?

What is the best test for Acrodermatitis Enteropathica?

When should I get tested for Acrodermatitis Enteropathica?

References

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