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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
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
Cerebrospinal fluid amino acid levels in newborn infants with intracranial hemorrhage.
Yurdakök M, Coşkun T, Erdem G, Göktoğan S, Ozalp I, Tekinalp G
Acta Paediatr Jpn 1995 Dec;37(6):694-6. doi: 10.1111/j.1442-200x.1995.tb03406.x. PMID: 8775553
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
Biological studies of schizoaffective disorders.
Meltzer HY, Arora RC, Metz J
Schizophr Bull 1984;10(1):49-70. doi: 10.1093/schbul/10.1.49. PMID: 6422546

Diagnosis

Glutamate receptor antibodies in neurological diseases: anti-AMPA-GluR3 antibodies, anti-NMDA-NR1 antibodies, anti-NMDA-NR2A/B antibodies, anti-mGluR1 antibodies or anti-mGluR5 antibodies are present in subpopulations of patients with either: epilepsy, encephalitis, cerebellar ataxia, systemic lupus erythematosus (SLE) and neuropsychiatric SLE, Sjogren's syndrome, schizophrenia, mania or stroke. These autoimmune anti-glutamate receptor antibodies can bind neurons in few brain regions, activate glutamate receptors, decrease glutamate receptor's expression, impair glutamate-induced signaling and function, activate blood brain barrier endothelial cells, kill neurons, damage the brain, induce behavioral/psychiatric/cognitive abnormalities and ataxia in animal models, and can be removed or silenced in some patients by immunotherapy.
Levite M
J Neural Transm (Vienna) 2014 Aug;121(8):1029-75. Epub 2014 Aug 1 doi: 10.1007/s00702-014-1193-3. PMID: 25081016
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
Cerebrospinal fluid markers of Alzheimer's disease.
van Gool WA, Bolhuis PA
J Am Geriatr Soc 1991 Oct;39(10):1025-39. doi: 10.1111/j.1532-5415.1991.tb04052.x. PMID: 1918775
Review: Normal and abnormal central nervous system GABA metabolism in childhood.
Jaeken J, Casaer P, Haegele KD, Schechter PJ
J Inherit Metab Dis 1990;13(6):793-801. doi: 10.1007/BF01800202. PMID: 2079831

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
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
Role of serotonin in obsessive-compulsive disorder.
Baumgarten HG, Grozdanovic Z
Br J Psychiatry Suppl 1998;(35):13-20. PMID: 9829022
Biological correlations of suicide and aggressivity in major depressions (with melancholia): 5-hydroxyindoleacetic acid and cortisol in cerebral spinal fluid, dexamethasone suppression test and therapeutic response to 5-hydroxytryptophan.
López-Ibor JJ Jr, Saiz-Ruiz J, Pérez de los Cobos JC
Neuropsychobiology 1985;14(2):67-74. doi: 10.1159/000118207. PMID: 2418384
Nonketotic hyperglycinemia: clinical, biochemical, and therapeutic considerations.
Langan TJ, Pueschel SM
Curr Probl Pediatr 1983 Jan;13(3):1-30. doi: 10.1016/0045-9380(83)90016-6. PMID: 6301756

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
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
Tardive dyskinesia and substrates of energy metabolism in CSF.
Goff DC, Tsai G, Beal MF, Coyle JT
Am J Psychiatry 1995 Dec;152(12):1730-6. doi: 10.1176/ajp.152.12.1730. PMID: 8526238
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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