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No-cost AADC Deficiency testing supported by PTC Therapeutics

Work toward a potential diagnosis with just a simple blood test

PTC Therapeutics is supporting no-cost AADC Deficiency testing through a partnership with MNG Laboratories.

  • In patients with Aromatic L-amino Acid Decarboxylase (AADC) Deficiency, the neurotransmitter metabolite 3-OMD is elevated in the plasma1-3

If 3-OMD is elevated1

then

Reflex diagnostic tests will be conducted, including AADC enzyme activity analysis and DDC gene sequencing1


Why test for 3-OMD?

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

However, 3-OMD, which is a catabolic product of L-dopa that accumulates in individuals with AADC Deficiency, can be detected in their blood.4

The clinical course of AADC Deficiency
The clinical course of AADC Deficiency

Adapted from Wassenberg 2017.2

3-OMD=3-O-methyldopa; 5-HIAA=5-hydroxyindoleacetic acid; 5-HTP=5-hydroxytryptophan; HVA=homovanillic acid; L-dopa=L-3,4-dihydroxyphenylalanine; VLA=vanillactic acid.

AADC Deficiency Diagnostic Laboratory Partnership

Order your testing kit at

www.mnglabs.com/ptc-kit-orders
MNG Laboratories (Atlanta, GA)
Tests offered 3-OMD (plasma); if 3-OMD is elevated, DDC gene sequencing and AADC enzyme activity (plasma)
Test code MET29

What’s required for testing?

  • All testing and shipping materials are included in the kit
  • A minimum of 3 mL of blood is needed, but 4-5 mL is preferred
  • Whole blood can be shipped in an EDTA purple top collection tube at room temperature
  • Results can be expected within 10 to 14 days

How it works

Blood is collected and shipped to MNG Laboratories to measure 3-OMD levels in the plasma

If 3-OMD is elevated in the plasma, additional testing is conducted to confirm a diagnosis of AADC Deficiency:

  • DDC full gene sequencing
  • Plasma AADC enzyme activity assay

Questions?
For more information, email:
AADCDtesting@ptcbio.com

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What are the signs of AADC deficiency?

Discover the signs and symptoms that distinguish AADC Deficiency from other disorders.

AADC Deficiency Symptoms

References: 1. 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. 2. 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. 3. Hwu WL, Lee NC, Chien YH, et al. AADC deficiency: occurring in humans, modeled in rodents. Adv Pharmacol. 2013;68:273-284. 4. Chen PW, Lee NC, Chien YH, 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.