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Abnormal CSF amino acid concentration

MedGen UID:
1690375
•Concept ID:
C5139569
•
Finding
Synonyms: Abnormal amino acid levels in cerebrospinal fluid; Abnormal cerebrospinal fluid amino acid level; Abnormal CSF amino acid level
 
HPO: HP:0500184

Definition

Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal CSF amino acid 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
On the origin of EEG-slowing and encephalopathy during induction treatment of acute lymphoblastic leukemia.
Korinthenberg R, Scheuring B, Boos J, Niemeyer C
Med Pediatr Oncol 2002 Dec;39(6):566-72. doi: 10.1002/mpo.10189. PMID: 12376979
The concentrations of GABA, 5-HIAA and HVA in the cerebrospinal fluid of children with infantile spasms and the effects of ACTH treatment.
Airaksinen E, Tuomisto L, Riikonen R
Brain Dev 1992 Nov;14(6):386-90. doi: 10.1016/s0387-7604(12)80345-7. PMID: 1283505

Recent clinical studies

Etiology

Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E, Liepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser AK, Hoffmann GF, Scheffler K, van Spronsen FJ, Padovani A, Trefz F, Berg D
Neurology 2021 Jan 19;96(3):e399-e411. Epub 2020 Oct 22 doi: 10.1212/WNL.0000000000011088. PMID: 33093221
Dissociation between CSF total tau and tau protein phosphorylated at threonine 231 in Creutzfeldt-Jakob disease.
Buerger K, Otto M, Teipel SJ, Zinkowski R, Blennow K, DeBernardis J, Kerkman D, Schröder J, Schönknecht P, Cepek L, McCulloch C, Möller HJ, Wiltfang J, Kretzschmar H, Hampel H
Neurobiol Aging 2006 Jan;27(1):10-5. doi: 10.1016/j.neurobiolaging.2004.12.003. PMID: 16298235
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
Continuing education in neurometabolic disorders--serine deficiency disorders.
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452
Fasting plasma and CSF amino acid levels in amyotrophic lateral sclerosis: a subtype analysis.
Camu W, Billiard M, Baldy-Moulinier M
Acta Neurol Scand 1993 Jul;88(1):51-5. doi: 10.1111/j.1600-0404.1993.tb04186.x. PMID: 8372631

Diagnosis

An update on serine deficiency disorders.
van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ
J Inherit Metab Dis 2013 Jul;36(4):613-9. Epub 2013 Mar 6 doi: 10.1007/s10545-013-9592-4. PMID: 23463425
Dissociation between CSF total tau and tau protein phosphorylated at threonine 231 in Creutzfeldt-Jakob disease.
Buerger K, Otto M, Teipel SJ, Zinkowski R, Blennow K, DeBernardis J, Kerkman D, Schröder J, Schönknecht P, Cepek L, McCulloch C, Möller HJ, Wiltfang J, Kretzschmar H, Hampel H
Neurobiol Aging 2006 Jan;27(1):10-5. doi: 10.1016/j.neurobiolaging.2004.12.003. PMID: 16298235
Quantitative spectroscopic imaging of the human brain.
Pan JW, Twieg DB, Hetherington HP
Magn Reson Med 1998 Sep;40(3):363-9. doi: 10.1002/mrm.1910400305. PMID: 9727938
Non-ketotic hyperglycinaemia presenting as pachygyria.
Fletcher JM, Bye AM, Nayanar V, Wilcken B
J Inherit Metab Dis 1995;18(6):665-8. doi: 10.1007/BF02436754. PMID: 8750602
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.
Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR
AJNR Am J Neuroradiol 1989 Mar-Apr;10(2):315-21. PMID: 2494850Free PMC Article

Therapy

GABAergic contributions to the pathophysiology of depression and the mechanism of antidepressant action.
Sanacora G, Saricicek A
CNS Neurol Disord Drug Targets 2007 Apr;6(2):127-40. doi: 10.2174/187152707780363294. PMID: 17430150
Dissociation between CSF total tau and tau protein phosphorylated at threonine 231 in Creutzfeldt-Jakob disease.
Buerger K, Otto M, Teipel SJ, Zinkowski R, Blennow K, DeBernardis J, Kerkman D, Schröder J, Schönknecht P, Cepek L, McCulloch C, Möller HJ, Wiltfang J, Kretzschmar H, Hampel H
Neurobiol Aging 2006 Jan;27(1):10-5. doi: 10.1016/j.neurobiolaging.2004.12.003. PMID: 16298235
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Rubio-Gozalbo ME, Heerschap A, Trijbels JM, De Meirleir L, Thijssen HO, Smeitink JA
Magn Reson Imaging 1999 Jul;17(6):939-44. doi: 10.1016/s0730-725x(99)00002-8. PMID: 10402601
Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan.
Pranzatelli MR, Tate E, Huang Y, Haas RH, Bodensteiner J, Ashwal S, Franz D
Epilepsia 1995 Aug;36(8):783-91. doi: 10.1111/j.1528-1157.1995.tb01615.x. PMID: 7543407
Overnight sleep EEG and cerebrospinal fluid monoamines in seizures induced by movement.
Fukuyama Y, Ochiai Y, Hayakawa T, Miyagawa F
Neuropadiatrie 1979 May;10(2):138-49. doi: 10.1055/s-0028-1085320. PMID: 226908

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
Mitochondrial diseases mimicking neurotransmitter defects.
Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R
Mitochondrion 2008 Jun;8(3):273-8. Epub 2008 May 21 doi: 10.1016/j.mito.2008.05.001. PMID: 18558519
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
The neuro-cardio-endocrine response to acute subarachnoid haemorrhage.
Espiner EA, Leikis R, Ferch RD, MacFarlane MR, Bonkowski JA, Frampton CM, Richards AM
Clin Endocrinol (Oxf) 2002 May;56(5):629-35. doi: 10.1046/j.1365-2265.2002.01285.x. PMID: 12030914
Human CSF GABA concentrations: revised downward for controls, but not decreased in Huntington's chorea.
Perry TL, Hansen S, Wall RA, Gauthier SG
J Neurochem 1982 Mar;38(3):766-73. doi: 10.1111/j.1471-4159.1982.tb08697.x. PMID: 6460090

Clinical prediction guides

Reduced cerebrospinal fluid ethanolamine concentration in major depressive disorder.
Ogawa S, Hattori K, Sasayama D, Yokota Y, Matsumura R, Matsuo J, Ota M, Hori H, Teraishi T, Yoshida S, Noda T, Ohashi Y, Sato H, Higuchi T, Motohashi N, Kunugi H
Sci Rep 2015 Jan 15;5:7796. doi: 10.1038/srep07796. PMID: 25589364Free PMC Article
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Rubio-Gozalbo ME, Heerschap A, Trijbels JM, De Meirleir L, Thijssen HO, Smeitink JA
Magn Reson Imaging 1999 Jul;17(6):939-44. doi: 10.1016/s0730-725x(99)00002-8. PMID: 10402601
Amino acid concentration in dementia of the Alzheimer type and multi-infarct dementia.
Mochizuki Y, Oishi M, Hara M, Takasu T
Ann Clin Lab Sci 1996 May-Jun;26(3):275-8. PMID: 8726221
Fasting plasma and CSF amino acid levels in amyotrophic lateral sclerosis: a subtype analysis.
Camu W, Billiard M, Baldy-Moulinier M
Acta Neurol Scand 1993 Jul;88(1):51-5. doi: 10.1111/j.1600-0404.1993.tb04186.x. PMID: 8372631
Amyotrophic lateral sclerosis: amino acid levels in plasma and cerebrospinal fluid.
Perry TL, Krieger C, Hansen S, Eisen A
Ann Neurol 1990 Jul;28(1):12-7. doi: 10.1002/ana.410280105. PMID: 2375629

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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