Aromatic L-amino acid decarboxylase (AADC) deficiency is a very rare disease with a series of symptoms, often first evident very early in life. Because hypotonia (weakness) and movement disorders are among its most common symptoms, patients with AADC deficiency may be at an increased risk of infection.
Here’s information about infections, how an AADC deficiency can increase a person’s risk of infection, and how doctors diagnose and treat infections.
What causes infection?
Infections occur when bacteria, viruses, yeasts, fungi, or other harmful microorganisms begin to grow and spread throughout the body. The immune system normally detects invading germs and sets up a defense to eliminate the infection they cause.
Does AADC Deficiency Affect the Risk of Infection?
Patients with AADC deficiency tend to have a higher risk for infections that the general public. Researchers don’t believe this high risk is due to the disease itself, but rather a complication of its more common symptoms.
For example, swallowing disorders can lead to lung infections due to aspiration (accidental inhalation) of food or liquids.
Difficulty eating can also lead to insufficient nutrition and calorie intake, which makes a person more prone to infections.
Patients may also be at a higher risk due to limited movement, given their poor muscle tone and muscle stiffness, among other symptoms of the disease. Regular exercise is known to help strengthen the body’s immune system.
Frequent hospital visits can also expose these people to a greater number and variety of infectious agents, again increasing the risk of infection.
Specific to AADC deficiency, these patients may require additional monitoring when an infection is known, as their bodies often respond poorly to the systemic stress caused by the infection. An insufficient immune response could lead to a more serious infection.
How do doctors detect an infection?
Doctors use an exam and various tests to diagnose an infection, depending on its suspected cause. Their first step is to examine the patient’s symptoms, perform a physical exam, and look for risk factors. Fever, normally one of the most common symptoms of an infection, may not be as helpful in people with AADC deficiency because the disease can affect their ability to regulate body temperature. Patients can have a high temperature with or without infection.
After an initial investigation of symptoms, doctors might order a test to analyze fluids such as blood, urine, or sputum for signs of certain infectious agents. Analytical techniques used could include adding a stain before examining a sample under a microscope, attempting to grow infectious agents from a sample to better detect and identify germs, and search for genetic material. germ or signs of an immune response.
How are AADC deficiency infections treated?
The type of infection a patient has will determine the treatments a doctor will give. For example, bacterial infections are usually treated with antibiotics.
Viral infections cannot be treated directly, but doctors can prescribe medications to relieve symptoms and help strengthen the immune system.
Doctors usually treat fungal and parasitic infections with antifungal and antiparasitic drugs.
The immune system usually fights many infections without the need for medication, but this ability can be difficult with AADC deficiency. Preventing infections through good hygiene and adhering to immunization schedules can help keep patients healthy. Likewise, using a feeding tube can reduce the risk of aspiration when it is obvious and help ensure adequate nutrition. Good nutrition combined with exercise, such as a tailored exercise program from a physiotherapist or other specialist, can also help the patient’s immune system to better fight off any infection.
Last updated: January 27, 2021
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