Description:
<jats:title>Abstract</jats:title><jats:p>We report the outcome of 12 patients with inherited neurotransmitter disorders of monoamine, tetrahydrobiopterin and <jats:italic>γ</jats:italic> amino butyric acid metabolisms from a single Inherited Neurotransmitter Disorder Clinic including tyrosine hydroxylase (<jats:italic>n</jats:italic>=2), aromatic <jats:sc>l</jats:sc>-amino acid decarboxylase (<jats:italic>n</jats:italic>=1), 6-pyruvoyltetrahydropterin synthase, dihydropteridine reductase and succinic semialdehyde dehydrogenase deficiencies. Six patients (with 6-pyruvoyltetrahydropterin synthase, dihydropteridine reductase and tyrosine hydroxylase deficiencies) had normal neurodevelopmental outcome on treatment. Tetrahydrobiopterin loading test in newborns with positive newborn screening for phenylketonuria will identify patients with 6-pyruvoyltetrahydropterin synthase and dihydropteridine reductase deficiencies resulting in abnormal neurotransmitter synthesis in the central nervous system in the neonatal period to initiate disease-specific treatment to improve neurodevelopmental outcome.</jats:p>