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Alpha-1-antitrypsin Deficiency in Children


  • Alpha-1 antitrypsin deficiency is also called AATD. It is a condition where your child does not have enough healthy alpha-1 antitrypsin (AAT) in his blood. AAT is a protein made by the liver that blocks damaging effects of certain enzymes (chemicals) in the body. These enzymes help fight infection and get rid of harmful body chemicals. Without enough AAT, these enzymes work uncontrolled, and may harm healthy body tissues. AATD is a condition your child is born with that is caused by abnormal genes for AAT. Genes are little pieces of information that tell the body what to do or what to make. In AATD, your child may have little or no healthy AAT, or has abnormal AAT in his body.
  • Your child may have yellowing of his skin or the whites of his eyes, itching, or abdominal (belly) pain. He may pass dark urine, have pale stools, or throw up blood. Your child may not gain weight and grow as fast as other children his age. Different blood tests may be done to check the level and type of AAT in your child's blood. Genetic testing, a procedure that looks for the abnormal gene for AATD, may be done. Your child may also have other tests to check how well his body is working. Treatment may include a special diet to help your child grow, and surgery to replace his damaged liver. With treatment and care, your child's symptoms may be relieved and he may grow up healthy.



  • Keep a current list of your child's medicines: Include the amounts, and when, how, and why they are taken. Bring the list and the medicines in their containers to follow-up visits. Carry your child's medicine list with you in case of an emergency. Throw away old medicine lists. Give vitamins, herbs, or food supplements only as directed.
  • Give your child's medicine as directed: Call your child's primary healthcare provider if you think the medicine is not working as expected. Tell him if your child is allergic to any medicine. Ask before you change or stop giving your child his medicines.

Ask for more information about where and when to take your child for follow-up visits:

For continuing care, treatments, or home services for your child, ask for information.

  • Do not miss your child's medical appointments. Regular exams and tests will help caregivers know if your child has any problems that need treatment. Your child's health may be better if his problems are found and treated early.
  • Take your child to his caregiver for vaccinations (shots) to help protect his health. These may include hepatitis A and B shots.


Extra vitamins and a special diet high in calories may be ordered for your child. These will help him gain weight and get proper nutrition. This may also give him energy and strength to do his daily activities.

Keep your child away from harmful fumes:

Chemical fumes and tobacco smoke may damage, or worsen damage to your child's lungs. If anyone in your family smokes tobacco, ask them to stop or keep it away from your child. Talk to your child about the dangers of smoking. Your child may need to avoid future jobs that expose him to smoke or harmful chemicals.


  • You are having problems feeding your child and you feel he is not getting enough to eat.
  • You feel that your child is not gaining weight or growing as fast as other children his age.
  • Your child's body itches all over.
  • Your child's jaundice does not go away.
  • You or your child has questions or concerns about his condition, medicines, or care.


  • Your child has trouble breathing.
  • Your child has pain in his abdomen that does not go away.
  • Your child throws up blood, or passes black or bloody stools.

The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

Learn more about Alpha-1-antitrypsin Deficiency in Children (Aftercare Instructions)

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