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…
In a new study, investigators characterized the molecular consequences of two particular variants in the aromatic amino acid or dopa decarboxylase (DDC) gene at the protein level. It is hoped that better understanding such details will lead to better prognoses and, eventually, targeted therapies. The study, “…
A recent report reviewing the use of gene therapy for Taiwanese patients with aromatic l‐amino acid decarboxylase (AADC) deficiency suggests that such strategies may one day lead to a cure for this condition. The report, “A review of aromatic l‐amino acid decarboxylase (AADC) deficiency in Taiwan,” was…
A new study has begun to unravel how heterozygous mutations in aromatic l-amino acid decarboxylase (AADC) deficiency patients affect protein function at the molecular level, providing evidence for a complementary function when the mutations R347Q and R358H both are present. The study, “Heterozygosis in aromatic amino acid decarboxylase…
The International Working Group on Neurotransmitter Related Disorders (iNTD) has created guidelines for the care of patients with aromatic L-amino acid decarboxylase (AADC) deficiency. Titled, “Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency,” the guidelines were published in Orphanet Journal of…
Antisense oligonucleotides (ASOs) — short nucleic acid molecules used to modulate protein production — can be used to correct abnormal dopa decarboxylase (DDC) processing in cells from patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a new study reports. The study, “Antisense oligonucleotides modulate dopa decarboxylase function in…
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