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  • Could her hypotonia be the result of AADC Deficiency?

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

    Does your patient have 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

  • Could her hypotonia be the result of AADC Deficiency?

    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

  • Could her hypotonia be the result of AADC Deficiency?

    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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VIEW AADC DEFICIENCY DIAGNOSTIC JOURNEYS

Watch one family talk about their experience with AADC deficiency and the journey they took to get an accurate diagnosis for their daughter. Click below to review cases of AADC deficiency diagnosis in other patients.

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“She’s an angel. We feel like we’ve been blessed with an angel, and Jillian’s got an amazing spirit.”

Kelly Heger, mother and caregiver of Jillian Heger

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.