Abstract

The neurotransmitter metabolism disorders are increasingly recognized as an expanding group of inherited neurometabolic syndromes caused by impairment of neurotransmitter synthesis, breakdown and transport. Disturbances in monoamine neurotransmitter metabolism lead to neurological syndromes that frequently mimic other conditions, such as hypoxic ischemic encephalopathy, cerebral palsy, parkinsonism-dystonia syndromes and paroxysmal disorders. As a consequence, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of monoamine neurotransmitter disorders requires detailed clinical assessment, cerebrospinal fluid neurotransmitter analysis and further supportive diagnostic investigations. A high index of clinical suspicion is important, given the availability of therapeutic strategies. In this review, we highlight recent advances in the field, particularly the recent extensive characterization of known neurotransmitter disorders and identification of novel neurotransmitter disorders.