Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology

Inherited disorders of neurotransmitter metabolism comprise an expanding heterogeneous spectrum of diseases associated with complex movement disorders, autonomic features, and global developmental delay (GDD).1, 2 Monoamine neurotransmitter disorders (NTD) are due to primary or secondary defects in the biosynthesis, degradation or transport of dopamine, norepinephrine, epinephrine, and serotonin. Here, we describe two patients where the diagnosis of a treatable NTD was confounded by the presence of dual pathology.