You are using an outdated browser. Please upgrade your browser to improve your experience and security.

Skip to content

VIDEO: Why screen for levels of 3-O-methyldopa (3-OMD) in the blood of patients suspected of having Aromatic L-amino Acid Decarboxylase (AADC) deficiency?

Keith Hyland, PhD, explains what 3-O-methyldopa (3-OMD) is and why physicians should screen for it in patients who may have Aromatic L-amino Acid Decarboxylase (AADC) deficiency

Hyland: Simplest answer for that, is it’s simple to test for. It just doesn’t require too drastic a procedure, just requires a blood sample to be drawn.

3-O-methyldopa is a compound that accumulates in AADC deficiency. It rises because what’s called L-dopa is not converted to dopamine. And the L-dopa gets methylated to this 3-O-methyldopa compound. And it is a very reliable marker for AADC deficiency. It accumulates to very high levels in blood and in spinal fluid. So, if you want to screen for AADC deficiency, it’s a very good screening biomarker for the disorder.

PTC Pinpoint™ offers no-cost genetic testing for individuals who have symptoms consistent with AADC deficiency

Learn more or order a test

Sign up to stay connected

Get more information