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,…
About one in 39 individuals with neurological deficits on the Italian island of Sicily are carriers of genetic mutations associated with aromatic l-amino acid decarboxylase (AADC) deficiency, a higher prevalence than previously estimated, according to a recent study. Carriers are individuals with one mutated copy of the gene and…
The first successes of gene therapy for AADC deficiency highlight the potential that gene therapies have to improve life for people affected by neurological disorders, researchers said in a new review paper. The paper, “Gene therapy for neurodegenerative disorders in children: dreams and realities,” was published…
Following gene therapy, people with AADC deficiency should receive a few weeks of intensive physical therapy, with additional physical therapy and age-appropriate rehabilitative support in the months and years that follow. That’s according to new recommendations put forward in a paper, “A position statement on the…
The use of real-time magnetic resonance imaging (MRI) during direct-to-brain delivery of gene therapy may help optimize the safety and effectiveness of such therapeutics for neurological diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. In a recent review study published in JAMA Surgery, researchers at the Ohio…
Researchers have proposed a set of factors for doctors to consider when deciding if a patient is a good fit to undergo gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. Suggested criteria include: genetically and biochemically confirmed disease, lack of achievement of motor milestones and/or persistent movement disorders,…
Advanced genetic sequencing enabled the identification of a mutation — deep within a non-protein-coding portion of the DDC gene — that likely contributed to severe aromatic l-amino acid decarboxylase (AADC) deficiency in Japanese siblings, first diagnosed with the rare disease more than a decade ago. At the time of…
Machine learning, a form of artificial intelligence (AI), was applied to electronic health records to identify young people who may have undiagnosed aromatic l-amino acid decarboxylase (AADC) deficiency, a study reports. Based on a manual review, nearly 23% of the top-ranked predicted cases were…
A unusually mild case of aromatic l-amino acid decarboxylase (AADC) deficiency, one characterized by exercise-induced episodes of involuntary muscle contractions, was described in a recent report. Scientists suspect that this atypical presentation was responsible for a substantial delay in the boy’s AADC deficiency diagnosis, arrived at when he…
Researchers say childhood epilepsy and mild attention deficits were effectively “hiding” a case of mild aromatic l-amino acid decarboxylase (AADC) deficiency in a teenage girl, according to a new case report. “In this study, we describe a 13-year-old girl with late-onset, mild, and atypical AADC deficiency diagnosed ‘by chance’…
Get regular updates to your inbox.