What is new for monoamine neurotransmitter disorders?
The monoamine neurotransmitter disorders are increasingly recognized as an expanding group of inherited neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogenic amines, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine metabolism lead to neurological syndromes that frequently mimic other conditions, such as hypoxic ischemic encephalopathy, cerebral palsy, parkinsonism-dystonia syndromes, primary genetic dystonia and paroxysmal disorders. As a consequence, neurotransmitter disorders are frequently misdiagnosed. Early and accurate diagnosis of these neurotransmitter disorders is important, as many are highly amenable to, and some even cured by, therapeutic intervention. 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. We also provide an overview of current and future research in the field focused on developing novel treatment strategies.
Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Clara
C
Marecos
Joanne
J
Ng
Manju A
MA
Kurian
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000172:deficiency; D015306:Biogenic Monoamines / Q000378:metabolism; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000628:therapy*; D050483:Dopamine Plasma Membrane Transport Proteins / Q000172:deficiency / Q000235:genetics; D004421:Dystonia / Q000175:diagnosis / Q000628:therapy; D020821:Dystonic Disorders / Q000151:congenital / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D018377:Neurotransmitter Agents / Q000172:deficiency* / Q000378:metabolism; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000628:therapy; D013577:Syndrome; D050481:Vesicular Neurotransmitter Transport Proteins / Q000172:deficiency / Q000235:genetics
D015306:Biogenic Monoamines; D050483:Dopamine Plasma Membrane Transport Proteins; D018377:Neurotransmitter Agents; D050481:Vesicular Neurotransmitter Transport Proteins; D001142:Aromatic-L-Amino-Acid Decarboxylases