What is the disease ‘Aromatic Amino Acid Decarboxylase (AADC)Deficiency’?

AADC deficiency is rare metabolic neurotransmitter disease.

AADC is an essential enzyme, which is involved in the decarboxylation of  aromatic amino acids; if the enzyme is defective, formation of the neurotransmitters dopamine and serotonin is impaired and the passage and signalling within the brain is disrupted.

In AADC Deficiency there is a failure to convert the chemicals L-dopa and 5-hydroxytryptophan to the active neurotransmitter chemicals Dopamine and Serotonin. These are two of the brains main neurotransmitters needed for everyday living.

Dopamine
Dopamine can be converted further to the neurotransmitters norepinephrine (noradrenaline) and epinephrine (adrenaline).  Collectively this group of neurotransmitters are known as catecholamines.

Serotonin
Serotonin can also be converted to melatonin, which may also theoretically be deficient in AADC deficiency.

Absent or decreased amounts of neurotransmitters such as those described above have catastrophic affects leaving an AADC affected child with profound disabilities
(more information can be found under ‘Symptoms of AADC Deficiency’ )