title: Clinical Use of CSF Neurotransmitters.
abstract: BACKGROUND
  Cerebrospinal fluid neurotransmitter collection, analysis, and follow-up are integral to the diagnosis and management of multiple inborn metabolic errors, some of which require prompt identification and intervention to improve outcome. Cerebrospinal fluid pterins and monoamine metabolites are diagnostic in a range of primary neurotransmitter disorders, including disorders of biogenic amine synthesis, metabolism, and transport.
  Recently described mutations of the human dopamine transporter are associated with an elevated cerebrospinal fluid homovanillic acid:hydroxyindoleacetic acid ratio. Disorders of pyridoxine metabolism are also detectable via cerebrospinal fluid quantification of bioamines, amino acids, and pyridoxal-5-phosphate levels. Cerebrospinal fluid amino acids are diagnostic in disorders of gamma aminobutyric acid, glycine, and serine metabolism. A wide range of acquired and genetic disorders has also been associated with secondary alterations in cerebrospinal fluid levels of monoamine metabolites, glycine, and neopterin.
  
  
  CONCLUSIONS
  Lumbar puncture is required to detect abnormal cerebrospinal fluid metabolites in a significant proportion of these disorders, including treatable entities such as dopa-responsive deficiencies of guanosine-5'-triphosphate cyclohydrolase I (Segawa disease), sepiapterin reductase, and tyrosine hydroxylase.
authors.affiliation: Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Lance H
authors.initials: LH
authors.lastname: Rodan
authors.affiliation: Department of Experimental & Systems Pharmacology, College of Pharmacology, Washington State University, Spokane, Washington.
authors.forename: K Michael
authors.initials: KM
authors.lastname: Gibson
authors.affiliation: Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts. Electronic address: Phillip.Pearl@childrens.harvard.edu.
authors.forename: Phillip L
authors.initials: PL
authors.lastname: Pearl
mesh_terms: D006801:Humans; D008661:Metabolism, Inborn Errors / Q000134:cerebrospinal fluid*; D018377:Neurotransmitter Agents / Q000134:cerebrospinal fluid*
chemical_list: D018377:Neurotransmitter Agents
keywords: CSF; GABA; dopamine; glycine; monoamines; neurotransmitters; pyridoxine; serotonin