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Abnormal CSF metabolite concentration

MedGen UID:
1385608
•Concept ID:
C4476787
•
Finding
Synonym: Abnormal cerebrospinal fluid metabolite concentration
 
HPO: HP:0025454

Definition

Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal CSF metabolite concentration

Professional guidelines

PubMed

Myo-inositol changes precede amyloid pathology and relate to APOE genotype in Alzheimer disease.
Voevodskaya O, Sundgren PC, Strandberg O, Zetterberg H, Minthon L, Blennow K, Wahlund LO, Westman E, Hansson O; Swedish BioFINDER study group
Neurology 2016 May 10;86(19):1754-61. Epub 2016 Apr 15 doi: 10.1212/WNL.0000000000002672. PMID: 27164711Free PMC Article
Neurologic complications of HIV disease and their treatment.
Letendre SL, Ellis RJ, Everall I, Ances B, Bharti A, McCutchan JA
Top HIV Med 2009 Apr-May;17(2):46-56. PMID: 19401607Free PMC Article
Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid.
Hyland K
Clin Chem 2008 Apr;54(4):633-41. Epub 2008 Feb 29 doi: 10.1373/clinchem.2007.099986. PMID: 18310141

Recent clinical studies

Etiology

Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population.
Vilanakis E, Papakonstantinou E, Paramera E, Argyri I, Drakou E, Kokkinou E, Zouvelou V, Outsika C, Pons R
Neuropediatrics 2023 Apr;54(2):126-133. Epub 2022 Nov 28 doi: 10.1055/a-1988-2412. PMID: 36442788
Brain and blood metabolite signatures of pathology and progression in Alzheimer disease: A targeted metabolomics study.
Varma VR, Oommen AM, Varma S, Casanova R, An Y, Andrews RM, O'Brien R, Pletnikova O, Troncoso JC, Toledo J, Baillie R, Arnold M, Kastenmueller G, Nho K, Doraiswamy PM, Saykin AJ, Kaddurah-Daouk R, Legido-Quigley C, Thambisetty M
PLoS Med 2018 Jan;15(1):e1002482. Epub 2018 Jan 25 doi: 10.1371/journal.pmed.1002482. PMID: 29370177Free PMC Article
Increased cerebrospinal fluid glutamine levels in depressed patients.
Levine J, Panchalingam K, Rapoport A, Gershon S, McClure RJ, Pettegrew JW
Biol Psychiatry 2000 Apr 1;47(7):586-93. doi: 10.1016/s0006-3223(99)00284-x. PMID: 10745050
Low serotonin and dopamine metabolite concentrations in cerebrospinal fluid from bulimic patients with frequent binge episodes.
Jimerson DC, Lesem MD, Kaye WH, Brewerton TD
Arch Gen Psychiatry 1992 Feb;49(2):132-8. doi: 10.1001/archpsyc.1992.01820020052007. PMID: 1372494
High performance liquid chromatography as a tool in the definition of abnormalities in monoamine and tryptophan metabolites in cerebrospinal fluid from patients with neurological disorders.
Baig S, Halawa I, Qureshi GA
Biomed Chromatogr 1991 May;5(3):108-12. doi: 10.1002/bmc.1130050304. PMID: 1863804

Diagnosis

Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population.
Vilanakis E, Papakonstantinou E, Paramera E, Argyri I, Drakou E, Kokkinou E, Zouvelou V, Outsika C, Pons R
Neuropediatrics 2023 Apr;54(2):126-133. Epub 2022 Nov 28 doi: 10.1055/a-1988-2412. PMID: 36442788
Clinical application of intrathecal gadobutrol for assessment of cerebrospinal fluid tracer clearance to blood.
Eide PK, Mariussen E, Uggerud H, Pripp AH, Lashkarivand A, Hassel B, Christensen H, Hovd MH, Ringstad G
JCI Insight 2021 May 10;6(9) doi: 10.1172/jci.insight.147063. PMID: 33822769Free PMC Article
Brain and blood metabolite signatures of pathology and progression in Alzheimer disease: A targeted metabolomics study.
Varma VR, Oommen AM, Varma S, Casanova R, An Y, Andrews RM, O'Brien R, Pletnikova O, Troncoso JC, Toledo J, Baillie R, Arnold M, Kastenmueller G, Nho K, Doraiswamy PM, Saykin AJ, Kaddurah-Daouk R, Legido-Quigley C, Thambisetty M
PLoS Med 2018 Jan;15(1):e1002482. Epub 2018 Jan 25 doi: 10.1371/journal.pmed.1002482. PMID: 29370177Free PMC Article
Neurologic complications of HIV disease and their treatment.
Letendre SL, Ellis RJ, Everall I, Ances B, Bharti A, McCutchan JA
Top HIV Med 2009 Apr-May;17(2):46-56. PMID: 19401607Free PMC Article
High performance liquid chromatography as a tool in the definition of abnormalities in monoamine and tryptophan metabolites in cerebrospinal fluid from patients with neurological disorders.
Baig S, Halawa I, Qureshi GA
Biomed Chromatogr 1991 May;5(3):108-12. doi: 10.1002/bmc.1130050304. PMID: 1863804

Therapy

Neurologic complications of HIV disease and their treatment.
Letendre SL, Ellis RJ, Everall I, Ances B, Bharti A, McCutchan JA
Top HIV Med 2009 Apr-May;17(2):46-56. PMID: 19401607Free PMC Article
Role of serotonin in obsessive-compulsive disorder.
Baumgarten HG, Grozdanovic Z
Br J Psychiatry Suppl 1998;(35):13-20. PMID: 9829022
Neuroendocrine abnormalities in human obesity.
Björntorp P
Metabolism 1995 Feb;44(2 Suppl 2):38-41. doi: 10.1016/0026-0495(95)90208-2. PMID: 7532780
Phenylethylamine and phenylacetic acid in CSF of schizophrenics and healthy controls.
Beckmann H, Reynolds GP, Sandler M, Waldmeier P, Lauber J, Riederer P, Gattaz WF
Arch Psychiatr Nervenkr (1970) 1983;232(6):463-71. doi: 10.1007/BF00344060. PMID: 6134517
CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia.
Stoerner JW, Butler IJ, Morriss FH Jr, Howell RR, Seifert WE Jr, Caprioli RM, Adcock EW 3rd, Denson SE
Am J Dis Child 1980 May;134(5):492-4. doi: 10.1001/archpedi.1980.02130170042014. PMID: 6155067

Prognosis

Brain Versus Blood: A Systematic Review on the Concordance Between Peripheral and Central Kynurenine Pathway Measures in Psychiatric Disorders.
Skorobogatov K, De Picker L, Verkerk R, Coppens V, Leboyer M, Müller N, Morrens M
Front Immunol 2021;12:716980. Epub 2021 Sep 23 doi: 10.3389/fimmu.2021.716980. PMID: 34630391Free PMC Article
Clinical application of intrathecal gadobutrol for assessment of cerebrospinal fluid tracer clearance to blood.
Eide PK, Mariussen E, Uggerud H, Pripp AH, Lashkarivand A, Hassel B, Christensen H, Hovd MH, Ringstad G
JCI Insight 2021 May 10;6(9) doi: 10.1172/jci.insight.147063. PMID: 33822769Free PMC Article
Microstructural and functional brain abnormalities in multiple sclerosis predicted by osteopontin and neurofilament light.
Orsi G, Cseh T, Hayden Z, Perlaki G, Nagy SA, Giyab O, Olsen DA, Madsen JS, Berki T, Illes Z
Mult Scler Relat Disord 2021 Jun;51:102923. Epub 2021 Mar 24 doi: 10.1016/j.msard.2021.102923. PMID: 33813096
Abnormal neurotransmitter metabolite levels in Alzheimer patients with a delirium.
van der Cammen TJ, Tiemeier H, Engelhart MJ, Fekkes D
Int J Geriatr Psychiatry 2006 Sep;21(9):838-43. doi: 10.1002/gps.1569. PMID: 16955437
Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.
Assmann B, Köhler M, Hoffmann GF, Heales S, Surtees R
Pediatr Res 2002 Jul;52(1):91-4. doi: 10.1203/00006450-200207000-00017. PMID: 12084853

Clinical prediction guides

Clinical application of intrathecal gadobutrol for assessment of cerebrospinal fluid tracer clearance to blood.
Eide PK, Mariussen E, Uggerud H, Pripp AH, Lashkarivand A, Hassel B, Christensen H, Hovd MH, Ringstad G
JCI Insight 2021 May 10;6(9) doi: 10.1172/jci.insight.147063. PMID: 33822769Free PMC Article
Microstructural and functional brain abnormalities in multiple sclerosis predicted by osteopontin and neurofilament light.
Orsi G, Cseh T, Hayden Z, Perlaki G, Nagy SA, Giyab O, Olsen DA, Madsen JS, Berki T, Illes Z
Mult Scler Relat Disord 2021 Jun;51:102923. Epub 2021 Mar 24 doi: 10.1016/j.msard.2021.102923. PMID: 33813096
Brain and blood metabolite signatures of pathology and progression in Alzheimer disease: A targeted metabolomics study.
Varma VR, Oommen AM, Varma S, Casanova R, An Y, Andrews RM, O'Brien R, Pletnikova O, Troncoso JC, Toledo J, Baillie R, Arnold M, Kastenmueller G, Nho K, Doraiswamy PM, Saykin AJ, Kaddurah-Daouk R, Legido-Quigley C, Thambisetty M
PLoS Med 2018 Jan;15(1):e1002482. Epub 2018 Jan 25 doi: 10.1371/journal.pmed.1002482. PMID: 29370177Free PMC Article
Neuroendocrine abnormalities in human obesity.
Björntorp P
Metabolism 1995 Feb;44(2 Suppl 2):38-41. doi: 10.1016/0026-0495(95)90208-2. PMID: 7532780
CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia.
Stoerner JW, Butler IJ, Morriss FH Jr, Howell RR, Seifert WE Jr, Caprioli RM, Adcock EW 3rd, Denson SE
Am J Dis Child 1980 May;134(5):492-4. doi: 10.1001/archpedi.1980.02130170042014. PMID: 6155067

Recent systematic reviews

Brain Versus Blood: A Systematic Review on the Concordance Between Peripheral and Central Kynurenine Pathway Measures in Psychiatric Disorders.
Skorobogatov K, De Picker L, Verkerk R, Coppens V, Leboyer M, Müller N, Morrens M
Front Immunol 2021;12:716980. Epub 2021 Sep 23 doi: 10.3389/fimmu.2021.716980. PMID: 34630391Free PMC Article
Poor evidence for putative abnormalities in cerebrospinal fluid neurotransmitters in patients with depression versus healthy non-psychiatric individuals: A systematic review and meta-analyses of 23 studies.
Pech J, Forman J, Kessing LV, Knorr U
J Affect Disord 2018 Nov;240:6-16. Epub 2018 Jul 21 doi: 10.1016/j.jad.2018.07.031. PMID: 30041075

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