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Work toward a potential diagnosis with just a simple blood test

  • In patients with Aromatic L-amino Acid Decarboxylase (AADC) deficiency, the neurotransmitter metabolite 3-OMD is elevated in plasma3-5

If 3-OMD is elevated3

then

Reflex diagnostic tests will be conducted, including AADC enzyme activity analysis and DDC gene sequencing3

Why test for 3-OMD?

Typically, the diagnosis of AADC deficiency requires cerebrospinal fluid (CSF) neurotransmitter analysis.

However, 3-OMD, a catabolic product of L-dopa that accumulates in individuals with AADC deficiency, can be detected in their blood.6

WATCH: Why screen for levels of 3-OMD in the blood of patients suspected of having AADC deficiency?

Keith Hyland, PhD, explains what 3-OMD is and why physicians should screen for it in patients who may have AADC deficiency

3-OMD=3-O-methyldopa; GABA=gamma-aminobutyric acid.

Questions about testing?

For more information, email: AADCDtesting@ptcbio.com

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Take a closer look at the diagnostic process for a few patients

References: 1. 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. 2. 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. 3. 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. 4. 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. 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. Chen P-W, Lee N-C, Chien Y-H, et al. Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots. Clin Chim Acta. 2014;431:19-22.