Abstract Childhood neurotransmitter disorders are
increasingly recognised as an expanding group of inherited
neurometabolic syndromes. They are caused by disturbance
in synthesis, metabolism, and homeostasis of the monoamine
neurotransmitters, including the catecholamines (dopamine,
norepinephrine, and epinephrine) and serotonin. Disturbances
in monoamine neurotransmission will lead to neurological
symptoms that often overlap with clinical features
of other childhood neurological disorders (such as hypoxic
ischaemic encephalopathy, cerebral palsy, other movement
disorders, and paroxysmal conditions); consequently, neurotransmitter
disorders are frequently misdiagnosed. The
diagnosis of neurotransmitter disorders is made through
detailed clinical assessment, analysis of cerebrospinal fluid
neurotransmitters, and further supportive diagnostic
investigations. Early and accurate diagnosis of neurotransmitter
disorders is important, as many are amenable to
therapeutic intervention. The principles of treatment for
monoamine neurotransmitter disorders are mainly directly
derived from understanding these metabolic pathways. In
disorders characterized by enzyme deficiency, we aim to
increase monoamine substrate availability, boost enzyme cofactor
levels, reduce monoamine breakdown, and replace
depleted levels of monoamines with pharmacological analogs
as clinically indicated. Most monoamine neurotransmitter
disorders lead to reduced levels of central dopamine
and/or serotonin. Complete amelioration of motor symptoms
is achievable in some disorders, such as Segawa’s syndrome,
and, in other conditions, significant improvement in quality
of life can be attained with pharmacotherapy. In this review,
we provide an overview of the clinical features and current
treatment strategies for childhood monoamine neurotransmitter
disorders
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