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It is now more important than ever to find the cause of your patient's hypotonia

Does your patient has unexplained hypotonia and developmental delay?1-3

It may be Aromatic L-amino Acid Decarboxylase (AADC) deficiency, a life-threatening disorder of the central nervous system2

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Have you identified a movement disorder and ruled out seizures and epilepsy?4,5

It could be episodes of oculogyric crises

Oculogyric crises, which are episodes of sustained upward or lateral deviation of the eyes, rhythmic orofacial movements, backward and lateral flexions of the neck, tongue protrusion, and jaw spasms, are a hallmark symptom of Aromatic L-amino Acid Decarboxylase (AADC) deficiency.3,6

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Narrow your differential diagnosis by investigating red-flag diagnostic clues

Normal EEG and neuroimaging, autonomic symptoms, and/or diurnal variation?2,3,7-10

Any one or a combination of these red-flag diagnostic clues should prompt an investigation of a neurotransmitter disorder, like Aromatic L-amino Acid Decarboxylase (AADC) deficiency.2,3,7-10

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References: 1. 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. 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. 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. 4. 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. 5. 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. 6. 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. 7. 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. 8. Pearson TS, Gilbert L, Opladen T, et al. AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis. 2020;43(5):1121-1130. doi: 10.1002/jimd.12247. 9. Ng J, Papandreou A, Heales SJ, et al. Monoamine neurotransmitter disorders—clinical advances and future perspectives. Nat Rev Neurol. 2015;11(10):567-584. 10. Pearson TS, Pons R, Ghaoui R, et al. Genetic mimics of cerebral palsy. Mov Disord. 2019;34(5):625-636. doi:10.1002/mds.27655.


AE-AADC-0267 | August 2022