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AADC Deficiency may be misdiagnosed or go undiagnosed, delaying treatment and proper management1,2

Despite symptom onset during infancy, diagnosis is typically delayed1,2

Mean age of diagnosis
3.5 years2

Age range of diagnosis
2 months to 23 years2

Many of the most common symptoms of AADC Deficiency can also be attributed to a number of other conditions such as cerebral palsy and epilepsy, resulting in potential misdiagnosis.1-5 However, the presence of the following should prompt investigation of AADC Deficiency:

  • Autonomic symptoms that are not typical of other conditions1-5
  • Normal EEG and neuroimaging; one study showed that only a small proportion of patients with AADC Deficiency had an abnormal EEG, MRI, or CT1

CT=computed tomography; EEG=electroencephalogram; MRI=magnetic resonance imaging.

The challenge of a correct diagnosis: conditions with symptoms similar to AADC Deficiency2-6

Possible AADC Deficiency misdiagnosis

Symptoms May be diagnosed as
Oculogyric crisis Epilepsy
Motor delay
Cerebral palsy3,4
Neuromuscular weakness

Learn about patients with AADC Deficiency

View profiles of patients with AADC Deficiency and see how this rare genetic disorder can affect a patient’s development and functioning.

Patient Profiles

References: 1. Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64-71. 2. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12. doi: 10.1186/s13023-016-0522-z. 3. Krigger KW. Cerebral palsy: an overview. Am Fam Physician. 2006;73(1):91-100. 4. Ng J, Papandreou A, Heales SJ, et al. Monoamine neurotransmitter disorders—clinical advances and future perspectives. Nat Rev Neurol. 2015;11(10):567-584. 5. Kurian MA, Dale RC. Movement disorders presenting in childhood. Continuum (Minneap Minn). 2016;22(4 Movement Disorders):1159-1185. 6. Lee WT. Disorders of monoamine metabolism: inherited disorders frequently misdiagnosed as epilepsy. Epilepsy & Seizure. 2010;3(1):147-153. Accessed January 17, 2019.