"We know that there are a large number of patients with AADC deficiency that have yet to be properly diagnosed," said
AADC deficiency is caused by pathogenic mutations in the dopa decarboxylase (DDC) gene, resulting in a lack of functioning AADC enzyme, which is responsible for the final step in the synthesis of key neurotransmitters dopamine and serotonin.1 In the brain, dopamine and serotonin are important nerve cell signalling molecules.
"Identifying the underlying genetic mutations of AADC deficiency is critical to understand the nature and prognosis of an individual patient's disease, and to ensure the best possible treatment," said Dr.
The free test requires only a blood sample from a patient, which is analyzed to identify a number of indicators for the disabling disease. Healthcare professionals can order the test from PTC if they have concerns about patients who may be showing symptoms of AADC deficiency.
Questions regarding diagnostic testing for AADC deficiency can be directed to AADCDtesting@ptcbio.com. For more information on AADC deficiency, please visit the websites below:
- Healthcare professionals – https://aadcinsights.com/
- Caregivers or patients – https://aboutaadc.com/
About aromatic L-amino acid decarboxylase (AADC) deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic condition caused by pathogenic mutations in the dopa decarboxylase (DDC) gene, resulting in a lack of functioning AADC enzyme, which is responsible for the final step in the synthesis of key neurotransmitters dopamine and serotonin.1
AADC deficiency results in delays or failure to reach developmental milestones such as walking, talking, sitting unassisted, or having head control, low muscle tone (also known as muscular hypotonia), severe, seizure-like episodes involving involuntary eye rolling (also known as oculogyric crises), autonomic abnormalities, and the need for life-long care.1 Given this neurologically devastating illness, patients with severe AADC deficiency have a high risk for death during childhood. Treatment options for patients with AADC deficiency are limited and there are currently no approved therapies that address the underlying cause.
About the AADC deficiency no-cost test
Initial testing for AADC deficiency has previously, typically involved an analysis of cerebrospinal fluid (CSF), taken via a lumbar puncture, also known as a spinal tap. No-cost testing supported by
Outside of the U.S., if 3-OMD levels are elevated, DDC gene sequencing is conducted to confirm diagnosis. Country-specific rules regarding the test may differ, and restrictions may apply based on the country from where the request originates.
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically-differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us on www.ptcbio.com and follow us on
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- NIH Genetics Home Reference. Aromatic l-amino acid decarboxylase deficiency. 2019. Available at: https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency#definition Last accessed
- Hwu et al. Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in
Taiwan. JIMD Rep. 2018; 40: 1-6.
- Wassenberg et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017; 12:12.
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