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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

What are the signs and symptoms of mitochondrial disorders?

  • 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

How are mitochondrial disorders and AADC deficiency similar and how are they different?

  • 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:
Mitochondrial disorders - Hypotonia ​
Mitochondrial disorders - Hypertonia ​
Mitochondrial disorders - Seizure​
Mitochondrial disorders - Ptosis
Autonomic dysfunction
Mitochondrial disorders - Autonomic dysfunction
Oculogyric crisis
Mitochondrial disorders - Oculogyric crisis
Mitochondrial disorders - Dyskinesia ​
  • 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

GL-AADC-0985 | February 2022

Welcome to About AADC

A website for parents and caregivers of children with AADC deficiency, and members of the public interested in the condition. This website has been provided by PTC Therapeutics.

This educational website provides information to support awareness of a rare neurotransmitter disorder called aromatic L-amino acid decarboxylase (AADC) deficiency.