Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur. The inherited form is caused by genetic changes in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc.

Genetic Mutations

Acrodermatitis enteropathica is caused by harmful genetic changes, also known as pathogenic variants. Genetic changes can occur randomly, as a result of environmental factors, from parents passing them down to their children, or a combination of these. Additionally, they can occur before birth or at any time during a person's life.

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.

Known Pathogenic Variants

Acrodermatitis enteropathica is caused by pathogenic variants in the following known gene(s): SLC39A4

Given these known pathogenic variant(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease, or can provide other useful information to your health care team.

Disruption in Metabolism

Acrodermatitis enteropathica is caused by a disruption in a person's metabolism. Metabolism is the series of chemical reactions in our body that turns the food we eat into energy and removes toxins. Hormones and specific proteins, called enzymes, help make the right chemical reactions happen in the right order. However, genetic changes can prevent hormones or enzymes from working properly, which can lead to a disruption in metabolism such as energy not being created for the body or toxins not being removed from the body.

Can This Disease Be Passed Down From Parent to Child?

Yes. It is possible for a biological parent to pass down pathogenic variants that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team.

There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current pathogenic variant data, this disease can be inherited in the following pattern(s):

Autosomal Recessive

Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the pathogenic variant, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the pathogenic variant. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the pathogenic variant and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the pathogenic variant and is a carrier.

Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:

• Population Estimate: Fewer than 5,000 people in the U.S. have this disease.
• Symptoms: May start to appear as a Newborn and as an Infant.
• Cause: This disease is caused by a change in the genetic material (DNA)