The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study shows. These findings provide deeper insight into the functionality of this enzyme, and may help scientists to better understand the effects of certain specific mutations that cause AADC deficiency.
A new artificial intelligence (AI) tool — OpenAI’s GPT application programming interface (API) — has been integrated into FindZebra, an online search engine that aims to make it easier to find information about, and thereby diagnose, rare diseases. OpenAI’s GPT API is an innovative deep-learning tool that uses artificial…
Most rare disease experts are in favor of using DNA sequencing to screen newborns for AADC deficiency and other genetic disorders that are not covered by current screening programs, according to a survey. “Early identification of infants who are at risk for genetic disorders can be lifesaving and screening…
Children with aromatic L-amino acid decarboxylase (AADC) deficiency are continuing to experience motor function gains up to 10 years after receiving a single dose of PTC Therapeutics’ gene therapy Upstaza (eladocagene exuparvovec), new clinical trial data show. Alexis Russell, PTC’s senior medical director, discussed the findings during…
The case of a girl with unexplained seizures in whom an epilepsy gene panel screening was the key toward a correct diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency was described in a report. “This case report shows that AADC deficiency can be the underlying diagnosis in patients with…
IndoUSrare, a U.S.-based humanitarian organization, is working to build international connections between scientists to accelerate research that aims to improve care for people affected by rare diseases, such as AADC deficiency. “The solution to the considerable economic and social challenges presented by rare diseases is global collaboration. The…
A new mutation in the DDC gene was identified as the cause of aromatic L-amino acid decarboxylase (AADC) deficiency in a baby boy in the United Arab Emirates (UAE), scientists report. This marks the first documented case of AADC deficiency in the UAE and one of the few reported in the…
People with AACD deficiency commonly experience emotional problems and intellectual disability, though the severity of cognitive impairment varies markedly among patients, a new study indicates. “Our study provides further evidence that AADCD requires specific neurological and neuropsychological assessments to monitor the disease,” the study’s researchers wrote. The study, “Long-term…
Scientists have discovered a new technique to measure the activity of the aromatic-L-amino acid decarboxylase (AADC) enzyme to help diagnose AADC deficiency. The assay, which uses liquid chromatography-tandem mass spectrometry, was detailed in a study, “Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of…
Note: This story was updated on July 21, 2022, to note PTC is planning to request FDA approval of Upstaza. The European Commission has approved the gene therapy Upstaza (eladocagene exuparvovec) to treat aromatic l-amino acid decarboxylase (AADC) deficiency in patients ages 18 months and older. The approval…
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