title: Genetics of monoamine neurotransmitter disorders.
abstract: The monoamine neurotransmitter disorders are a heterogeneous group of inherited neurological disorders involving defects in the metabolism of dopamine, norepinephrine, epinephrine and serotonin. The inheritance of these disorders is mostly autosomal recessive. The neurological symptoms are primarily attributable to cerebral deficiency of dopamine, serotonin or both. The clinical presentations were highly variable and substantial overlaps exist. Evidently, laboratory investigations are crucial for accurate diagnosis. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) is the key to delineate the metabolic defects. Adjuvant investigations including plasma phenylalanine, urine pterins, urine 3-O-methyldopa (3-OMD) and serum prolactin are also helpful to establish the diagnosis. Genetic analyses are pivotally important to confirm the diagnosis which allows specific treatments, proper genetic counselling, prognosis prediction, assessment of recurrent risk in the family as well as prenatal diagnosis. Early diagnosis with appropriate treatment is associated with remarkable response and favourable clinical outcome in several disorders in this group.
authors.affiliation: Kowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China.
authors.forename: Wai-Kwan
authors.initials: WK
authors.lastname: Siu
keywords: Neurotransmitter disorders; genetics; paediatric
references.citation: Biochimie. 2000 Apr;82(4):327-37
references.pmid: 10865121
references.citation: Mov Disord. 2002 Mar;17(2):354-9
references.pmid: 11921123
references.citation: Nature. 1995 Apr 13;374(6523):640-3
references.pmid: 7715703
references.citation: J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S193-7
references.pmid: 18425437
references.citation: Brain. 2010 Jun;133(Pt 6):1810-22
references.pmid: 20430833
references.citation: J Clin Invest. 2009 Jun;119(6):1595-603
references.pmid: 19478460
references.citation: Lancet Neurol. 2011 Jan;10 (1):54-62
references.pmid: 21112253
references.citation: Acta Neurol Scand Suppl. 2014;(198):7-12
references.pmid: 24588500
references.citation: Mol Genet Metab. 2010 Apr;99(4):431-3
references.pmid: 20056467
references.citation: Mov Disord. 2011 Jul;26(8):1558-60
references.pmid: 21465550
references.citation: Brain Dev. 2006 Jul;28(6):389-91
references.pmid: 16376043
references.citation: J Inherit Metab Dis. 2009 Jun;32(3):371-80
references.pmid: 19172410
references.citation: Brain. 2009 Jul;132(Pt 7):1753-63
references.pmid: 19491146
references.citation: Brain Dev. 2008 Jan;30(1):82-5
references.pmid: 17590551
references.citation: Brain Dev. 2011 Mar;33(3):195-201
references.pmid: 21094587
references.citation: Lancet Neurol. 2011 Aug;10(8):721-33
references.pmid: 21777827
references.citation: Clin Biochem. 2005 Dec;38(12):1051-8
references.pmid: 16298354
references.citation: Eur J Paediatr Neurol. 2009 Mar;13(2):135-40
references.pmid: 18567514
references.citation: Pediatr Res. 1992 Dec;32(6):726-30
references.pmid: 1283784
references.citation: J Inherit Metab Dis. 2009 Jun;32(3):333-42
references.pmid: 19234759
references.citation: Hum Mutat. 2006 Sep;27(9):870-8
references.pmid: 16917893
references.citation: Clin Chim Acta. 2012 Jan 18;413(1-2):126-30
references.pmid: 21963339
references.citation: Neurology. 2005 Mar 8;64(5):908-11
references.pmid: 15753436
references.citation: J Inherit Metab Dis. 1985;8 Suppl 1:39-45
references.pmid: 3930840
references.citation: Clin Genet. 2010 Mar;77(3):249-57
references.pmid: 20059486
references.citation: Ann Neurol. 2003;54 Suppl 6:S13-7
references.pmid: 12891649
references.citation: J Clin Invest. 2009 Jun;119(6):1455-8
references.pmid: 19504720
references.citation: Adv Neurol. 2004;94:127-38
references.pmid: 14509665