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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

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
Stable isotope dilution ultra-high performance liquid chromatography-tandem mass spectrometry quantitative profiling of tryptophan-related neuroactive substances in human serum and cerebrospinal fluid.
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
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
Uncoupling of serotonergic and noradrenergic systems in depression: preliminary evidence from continuous cerebrospinal fluid sampling.
Geracioti TD Jr, Loosen PT, Ekhator NN, Schmidt D, Chambliss B, Baker DG, Kasckow JW, Richtand NM, Keck PE Jr, Ebert MH
Depress Anxiety 1997;6(3):89-94. PMID: 9442982
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

Diagnosis

Normal Morning Melanin-Concentrating Hormone Levels and No Association with Rapid Eye Movement or Non-Rapid Eye Movement Sleep Parameters in Narcolepsy Type 1 and Type 2.
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
Melanin concentrating hormone in central hypersomnia.
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
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
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595
Serotoninergic system in dementia of the Alzheimer type. Abnormal forms of 5-hydroxytryptophan and serotonin in cerebrospinal fluid.
Volicer L, Langlais PJ, Matson WR, Mark KA, Gamache PH
Arch Neurol 1985 Dec;42(12):1158-61. doi: 10.1001/archneur.1985.04060110040013. PMID: 2415092

Therapy

Melanin concentrating hormone in central hypersomnia.
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
Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.
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
Role of serotonin in obsessive-compulsive disorder.
Baumgarten HG, Grozdanovic Z
Br J Psychiatry Suppl 1998;(35):13-20. PMID: 9829022
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595
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

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
Normal Morning Melanin-Concentrating Hormone Levels and No Association with Rapid Eye Movement or Non-Rapid Eye Movement Sleep Parameters in Narcolepsy Type 1 and Type 2.
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
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
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
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

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
Abnormal response to granulocyte colony-stimulating factor (G-CSF) in canine cyclic hematopoiesis is not caused by altered G-CSF receptor expression.
Avalos BR, Broudy VC, Ceselski SK, Druker BJ, Griffin JD, Hammond WP
Blood 1994 Aug 1;84(3):789-94. PMID: 7519075
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
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

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

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