What is new for monoamine neurotransmitter disorders?

• Published in: Journal of inherited metabolic disease Vol. 37; no. 4; pp. 619 - 626
• Main Authors: Marecos, Clara, Ng, Joanne, Kurian, Manju A.
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Dordrecht Springer Netherlands 01.07.2014; Springer; Blackwell Publishing Ltd
• Subjects: Amino Acid Metabolism, Inborn Errors - diagnosis; Amino Acid Metabolism, Inborn Errors - therapy; Aromatic-L-Amino-Acid Decarboxylases - deficiency; Biochemistry; Biogenic Monoamines - metabolism; Biological and medical sciences; Brain Diseases, Metabolic, Inborn - diagnosis; Brain Diseases, Metabolic, Inborn - therapy; Dopamine Plasma Membrane Transport Proteins - deficiency; Dopamine Plasma Membrane Transport Proteins - genetics; Dystonia - diagnosis; Dystonia - therapy; Dystonic Disorders - congenital; Dystonic Disorders - diagnosis; Dystonic Disorders - therapy; Human Genetics; Humans; ICIEM Symposium 2013; Internal Medicine; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - therapy; Neurotransmitter Agents - deficiency; Neurotransmitter Agents - metabolism; Pediatrics; Psychomotor Disorders - diagnosis; Psychomotor Disorders - therapy; Syndrome; Vesicular Neurotransmitter Transport Proteins - deficiency; Vesicular Neurotransmitter Transport Proteins - genetics; Selegiline; Dopamine Agonist; Dystonia; Cerebral Palsy; Pramipexole; Nutrition; Neuromediator; Definition; Neurotransmitter; Genetics; Metabolic diseases; Genetic disease
• DOI: 10.1007/s10545-014-9697-4
• ISSN: 0141-8955

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.