Aromatic L-amino Acid Decarboxylase (AADC) deficiency is an autosomal recessive disorder associated with defects in neurotransmitter synthesis, resulting in profound motor and autonomic dysfunction and developmental delay.1-3
Many symptoms of AADC deficiency are similar to the symptoms of other more common conditions, making diagnosis a challenge.1-4
One or a combination of red-flag diagnostic clues should prompt investigation for AADC deficiency.
A 2010 study (n=78) recorded the prevalence of these common symptoms, which can help to identify AADC deficiency.1
Common signs and symptoms
Hypotonia1
Developmental delays1
Movement disorders1
Currently, these core tests can help diagnose AADC deficiency:2
Current consensus guidelines recommend CSF neurotransmitter metabolite panel and/or plasma AADC enzyme activity assay in combination with genetic testing to confirm AADC deficiency.2
CT=computed tomography; EEG=electroencephalogram; MRI=magnetic resonance imaging
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. Manegold C, Hoffmann GF, Degen I, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis. 2009;32(3):371-380. 4. Zouvelou V, Yubero D, Apostolakopoulou L, et al. The genetic etiology in cerebral palsy mimics: the results from a Greek tertiary care center. Eur J Paediatr Neurol. 2019;23(3):427-437. doi:10.1016/j.ejpn.2019.02.001. 5. Hwu W-L, Lee N-C, Chien Y-H, et al. AADC deficiency: occurring in humans, modeled in rodents. Adv Pharmacol. 2013;68:273-284. 6. Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004;62(7):1058-1065. 7. Lee W-T. Disorders of monoamine metabolism: inherited disorders frequently misdiagnosed as epilepsy. Epilepsy Seizure. 2010;3(1):147-153. doi:10.3805/eands.3.147. 8. Kurian MA, Dale RC. Movement disorders presenting in childhood. Continuum (Minneap Minn). 2016;22(4):1159-1185. 9. Himmelreich N, Montioli R, Bertoldi M, et al. Aromatic amino acid decarboxylase deficiency: molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127(1):12-22. doi:10.1016/j.ymgme.2019.03.009. 10. Ng J, Papandreou A, Heales SJ, et al. Monoamine neurotransmitter disorders—clinical advances and future perspectives. Nat Rev Neurol. 2015;11(10):567-584. 11. Pearson TS, Pons R, Ghaoui R, Sue CM. Genetic mimics of cerebral palsy. Mov Disord. 2019;34(5):625-636. 12. Hwu W-L, Chien Y-H, Lee N-C, et al. Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan. JIMD Rep. 2018;40:1-6. doi:10.1007/8904_2017_54.
AE-AADC-0267 | August 2022
The website is organised and funded by PTC Therapeutics for healthcare professionals only
© 2021 PTC Therapeutics. All rights reserved.
Cookie | Duration | Description |
---|---|---|
cookielawinfo-checkbox-necessary | 11 months | This cookie is set by GDPR Cookie Consent plugin. The cookies is used to store the user consent for the cookies in the category "Necessary". |
PHPSESSID | session | This cookie is native to PHP applications. The cookie is used to store and identify a users' unique session ID for the purpose of managing user session on the website. The cookie is a session cookies and is deleted when all the browser windows are closed. |
pum-2389 | 1 month | The cookie is set to remember the user’s consent to access the website as a healthcare professional. |
pum-3063 | 1 month | The cookie is set to remember the user’s consent to access the event’s page as a healthcare professional. |
viewed_cookie_policy | 11 months | The cookie is set by the GDPR Cookie Consent plugin and is used to store whether or not user has consented to the use of cookies. It does not store any personal data. |
Cookie | Duration | Description |
---|---|---|
Google analytics | November 2021 | Measure traffic to our Site and understand how Users move around, which helps us monitor the performance of features we offer within our Service to ensure full functionality. |
This website is provided for healthcare professionals residing in the Middle East and Africa.
This educational website provides information to support the early and accurate diagnosis of rare neurotransmitter disorders, including Aromatic L-amino Acid Decarboxylase (AADC) deficiency.