Marisa Wexler, MS, senior science writer —

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a press release from PTC Therapeutics, developer of a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. The day, recently designated AADC Deficiency Awareness Day in a resolution  passed by Massachusetts…

Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC) can be assessed through a high-resolution imaging technology called FMT-PET, a new study has confirmed. The study also showed that measuring changes in AADC activity in the brain by FMT-PET — an abbreviation for 6-fluoro-meta-tyrosine positron emission tomography —…

Two previously unknown gene mutations that cause aromatic L-amino acid decarboxylase (AADC) deficiency have been identified in two siblings whose cases were described in a new report. The mutations were found in the DDC gene in the African American sisters. Titled “Case report: discovery of 2…

A range of disease presentations, and of underlying genotypes, were observed in a study of aromatic l-amino acid decarboxylase (AADC) deficiency cases in mainland China. These findings broaden the known clinical signs associated with AADC deficiency, and they hint at connections between genotypes and disease course. The study, “…

Mutations discovered in the past five years that cause aromatic amino acid decarboxylase (AADC) deficiency affect the functioning of the AADC protein in previously unappreciated ways, namely promoting aggregation and preventing interactions among AADC protein pairs, a molecular study demonstrates. The new mechanisms identified in the study light the…

A new technique using dried blood spots could help in the diagnosis of aromatic L-amino-acid decarboxylase (AADC) deficiency and may be especially useful in newborn screening, a study demonstrates. The study, “High throughput newborn screening for aromatic L‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa…

PTC Therapeutics has launched a program to deliver — at no cost — blood tests that can help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency, the company announced. AADC deficiency, a genetic and neurometabolic disease, is caused by mutations in the gene DDC, which codes for the…

A broad range of diagnostic tools are available for diagnosing AADC deficiency and similar conditions. A recent review paper discusses many of these, highlighting the benefits and pitfalls of those available, and giving a view toward how new diagnostic methods may be applied in the future. The paper, “…

A genetic variant of DDC, the gene encoding L-aromatic amino acid decarboxylase (AADC), contributes to worse somatic symptoms due to low levels of serotonin — a neurotransmitter that contributes to well-being and happiness — in circulation, new research suggests. The study, “A functional substitution…