Mitochondrial disorders and AADC deficiency

Mitochondrial disorders and AADC deficiency have a number of overlapping signs and symptoms, meaning it can be difficult to tell them apart
On this page you will learn more about mitochondrial disorders, including how it is similar to AADC deficiency and how it is different

What are mitochondrial disorders?

Mitochondria are found in the cells of your body and generate the energy cells need to carry out their functions
Mitochondrial disorders occur when there is a problem with this energy generation process
There are many different mitochondrial disorders depending on what has gone wrong and what cells are affected
Like AADC deficiency, many mitochondrial disorders are genetic disorders, meaning they are passed from parents to children
It is thought that about 20 in every 100,000 people have a mitochondrial disorder

Because there are many different mitochondrial disorders, people can have a range of different signs and symptoms
These can include (not an exhaustive list):
- Poor growth
- Seizures
- Floppiness (also known as low muscle tone or hypotonia)
- Diabetes
- Problems with their heart
- Problems with their intestines such as diarrhoea, constipation or reflux

In babies, some of the symptoms of AADC deficiency such as slow, rigid movement (which looks like Parkinson’s disease and also known as hypokinetic rigid syndrome) or involuntary muscle contractions that cause slow repetitive movements or abnormal postures (also known as dystonia) can look like mitochondrial disorders
While mitochondrial disorders and AADC deficiency can have different signs and symptoms, some of the similarities and differences between these conditions are shown below. Click the icons for more information:

The overlap in signs and symptoms between mitochondrial disorders and AADC deficiency means that it can be hard for doctors to get the right diagnosis based on how a baby looks
Some of the signs and symptoms of mitochondrial disorders may also appear in other conditions including:

When there is a delay to a diagnosis of AADC deficiency, or it is incorrectly diagnosed, treatment and appropriate management of this condition are delayed
If your child is displaying any of the symptoms listed of AADC deficiency or mitochondrial disorders, talk to your child’s doctor