Measuring the levels of 3-O-methyldopa (3-OMD), a molecule that builds up in aromatic l-amino-acid decarboxylase (AADC) deficiency, can diagnose the disease in newborns, allowing it to be treated early in life, according to a German study. The study, “Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies,…
Another hospital visit and another test. Searching for answers for the condition of our daughter, Rylae-Ann, meant constant hospital admissions. Between testing and treating complications of this mystery disease, the hospital staff knew us by name. These trips involved drawing vials of blood, extracting cerebrospinal fluid (CSF), taping electrodes to…
Various tests, particularly blood tests, are normally requested if a doctor suspects your child may have aromatic l-amino acid decarboxylase (AADC) deficiency. An initial test might look at blood levels of 3-O-methyldopa (3-OMD). If those levels are high, a test to determine levels of AADC enzyme activity in the…
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