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Abnormal CSF aromatic amino acid concentration

MedGen UID:
1705745
Concept ID:
C5139599
Finding
Synonym: Abnormal aromatic amino acid levels in cerebrospinal fluid
 
HPO: HP:0500214

Definition

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

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
Hényková E, Vránová HP, Amakorová P, Pospíšil T, Žukauskaitė A, Vlčková M, Urbánek L, Novák O, Mareš J, Kaňovský P, Strnad M
J Chromatogr A 2016 Mar 11;1437:145-157. Epub 2016 Feb 6 doi: 10.1016/j.chroma.2016.02.009. PMID: 26879452
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
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
López-Ibor JJ Jr, Saiz-Ruiz J, Pérez de los Cobos JC
Neuropsychobiology 1985;14(2):67-74. doi: 10.1159/000118207. PMID: 2418384

Diagnosis

Schrölkamp M, Jennum PJ, Gammeltoft S, Holm A, Kornum BR, Knudsen S
J Clin Sleep Med 2017 Feb 15;13(2):235-243. doi: 10.5664/jcsm.6454. PMID: 27855741Free PMC Article
Peyron C, Valentin F, Bayard S, Hanriot L, Bedetti C, Rousset B, Luppi PH, Dauvilliers Y
Sleep Med 2011 Sep;12(8):768-72. Epub 2011 Jun 22 doi: 10.1016/j.sleep.2011.04.002. PMID: 21697009
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291
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
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595

Therapy

Peyron C, Valentin F, Bayard S, Hanriot L, Bedetti C, Rousset B, Luppi PH, Dauvilliers Y
Sleep Med 2011 Sep;12(8):768-72. Epub 2011 Jun 22 doi: 10.1016/j.sleep.2011.04.002. PMID: 21697009
Thimm E, Herebian D, Assmann B, Klee D, Mayatepek E, Spiekerkoetter U
Mol Genet Metab 2011 Feb;102(2):122-5. Epub 2010 Nov 10 doi: 10.1016/j.ymgme.2010.11.003. PMID: 21112803
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
Baumgarten HG, Grozdanovic Z
Br J Psychiatry Suppl 1998;(35):13-20. PMID: 9829022
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595

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
Schrölkamp M, Jennum PJ, Gammeltoft S, Holm A, Kornum BR, Knudsen S
J Clin Sleep Med 2017 Feb 15;13(2):235-243. doi: 10.5664/jcsm.6454. PMID: 27855741Free PMC Article
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
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
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595

Clinical prediction guides

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
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
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
Avalos BR, Broudy VC, Ceselski SK, Druker BJ, Griffin JD, Hammond WP
Blood 1994 Aug 1;84(3):789-94. PMID: 7519075
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595

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

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