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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

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
Korinthenberg R, Scheuring B, Boos J, Niemeyer C
Med Pediatr Oncol 2002 Dec;39(6):566-72. doi: 10.1002/mpo.10189. PMID: 12376979
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Brain Dev 1992 Nov;14(6):386-90. doi: 10.1016/s0387-7604(12)80345-7. PMID: 1283505

Recent clinical studies

Etiology

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
Cortès-Saladelafont E, Molero-Luis M, Cuadras D, Casado M, Armstrong-Morón J, Yubero D, Montoya J, Artuch R, García-Cazorla À; Institut De Recerca Sant Joan De Déu Working Group
Dev Med Child Neurol 2018 Aug;60(8):780-792. Epub 2018 Mar 25 doi: 10.1111/dmcn.13746. PMID: 29577258
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452
Mochizuki Y, Oishi M, Hara M, Takasu T
Ann Clin Lab Sci 1996 May-Jun;26(3):275-8. PMID: 8726221
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

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
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452
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
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
Jaeken J, Casaer P, Haegele KD, Schechter PJ
J Inherit Metab Dis 1990;13(6):793-801. doi: 10.1007/BF01800202. PMID: 2079831

Therapy

Watanabe M, Marcy B, Kinoshita K, Fukasawa M, Hikichi H, Chaki S, Okuyama S, Gevorkyan H, Yoshida S
Br J Clin Pharmacol 2020 Nov;86(11):2286-2301. Epub 2020 Jun 10 doi: 10.1111/bcp.14331. PMID: 32353162Free PMC Article
Sanacora G, Saricicek A
CNS Neurol Disord Drug Targets 2007 Apr;6(2):127-40. doi: 10.2174/187152707780363294. PMID: 17430150
de Koning TJ, Poll-The BT, Jaeken J
Neuropediatrics 1999 Feb;30(1):1-4. doi: 10.1055/s-2007-973447. PMID: 10222452
Baumgarten HG, Grozdanovic Z
Br J Psychiatry Suppl 1998;(35):13-20. PMID: 9829022
Langan TJ, Pueschel SM
Curr Probl Pediatr 1983 Jan;13(3):1-30. doi: 10.1016/0045-9380(83)90016-6. PMID: 6301756

Prognosis

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
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
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
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
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

Watanabe M, Marcy B, Kinoshita K, Fukasawa M, Hikichi H, Chaki S, Okuyama S, Gevorkyan H, Yoshida S
Br J Clin Pharmacol 2020 Nov;86(11):2286-2301. Epub 2020 Jun 10 doi: 10.1111/bcp.14331. PMID: 32353162Free PMC Article
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
Mochizuki Y, Oishi M, Hara M, Takasu T
Ann Clin Lab Sci 1996 May-Jun;26(3):275-8. PMID: 8726221
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
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

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
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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