Inês Martins, PhD, managing science editor —

The genetic variant that most commonly causes aromatic l-amino acid decarboxylase (AADC) deficiency seems to result in severe clinical manifestations, according to findings from the largest patient group from mainland China. According to the study, this variant — c.714+4A>T — led to significant delays in developmental milestones and total inability…

Most patients with aromatic l-amino acid decarboxylase (AADC) deficiency experience a combination of severe motor symptoms and prominent non-motor symptoms that persist from childhood to adulthood, according to findings from a recent study. Some older patients, however, have milder forms of the disease and are able to walk and sit independently, attend…

Measuring multiple metabolites at once in a single drop of cerebrospinal fluid (CSF) may hasten the diagnosis of many rare genetic disorders of metabolism that cause neurological problems, including aromatic l-amino acid decarboxylase (AADC) deficiency, research suggests. The new approach, which identified a new biomarker of AADC…