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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