Intensive Care for AADC Deficiency

If you have a child with aromatic l-amino acid decarboxylase (AADC) deficiency, they may be at an increased risk of needing intensive medical care. Here is more information about what intensive care involves, why your child may need it, and how doctors manage it.

What is AADC deficiency?

AADC deficiency is a rare genetic disorder caused by mutations in the DDC gene, which contains the instructions for cells to make the AADC protein. The body uses this protein to make two neurotransmitters, dopamine and serotonin. Neurotransmitters are chemicals that nerve cells use to send messages. Without enough functional AADC proteins, children do not make enough dopamine and serotonin, leading to the symptoms of AADC deficiency such as developmental delays and disabilities.

What is intensive care?

Intensive care is critical medical care for people with life-threatening illnesses or injuries. It usually takes place in the intensive care unit (ICU) of a hospital. In the ICU, patients generally have access to more life-saving equipment and have their vital signs, such as blood oxygen and heart rate, monitored much more closely.

Why might my child need intensive care?

There are several instances where your child may need intensive care, such as serious accidental injuries.

AADC deficiency may also make your child at a higher risk for several other emergency situations. For example, the lack of dopamine and serotonin can cause problems with the autonomic nervous system. The autonomic nervous system controls most of the involuntary actions of the body such as breathing and heart rate. Dysfunction of the autonomic nervous system can potentially cause emergencies related to complications of the heart and blood vessels. There are examples in the medical literature of patients having slower than usual heart rates as well as very low blood pressure that can be dangerous and potentially lead to a heart attack.

Your child may also experience oculogyric crises that may become severe and lead to whole-body dystonia called a dystonic crisis. During a dystonic crisis, muscles throughout the body undergo sustained contractions. This can cause breathing trouble, a breakdown of muscle tissue, and acute kidney failure, which may be life-threatening.

Children with AADC deficiency may also be at a high risk for infections. Their body may not respond strongly enough to infections, which could lead to the infection becoming more severe and possibly life-threatening.

What are the risks of intensive care for AADC deficiency?

Clinicians have to be careful about the increased risks to patients with AADC deficiency in the ICU. Having a medical alert card with information about a patient’s disease and medications can be very helpful to the ICU staff.

Symptoms caused by autonomic dysfunction may be made worse by the administration of some medications such as certain sedatives or during painful procedures such as blood draws.

During a dystonic crisis, patients should receive breathing help if needed, nutritional support, and fluids, as well as sedation with a benzodiazepine — a type of medication that helps suppress the nervous system. Patients should not receive levodopa — a dopamine precursor — or any medications that block dopamine in the body.

Doctors should closely monitor patients for infections. Laboratory tests will be run to determine the type of infection and appropriate treatments.

Last updated: March 10, 2021

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AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.