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Elevated CSF DOPA concentration

MedGen UID:: 1841966
•Concept ID:: C5826517
•: Finding

Synonym:	Elevated CSF 3,4-dihydroxyphenylalanine concentration

HPO:	HP:0034605

Definition

Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated CSF DOPA concentration

Abnormality of the nervous system
- Abnormal nervous system morphology
  - Morphological central nervous system abnormality
    - Abnormal cerebrospinal fluid morphology
      - Abnormal CSF metabolite concentration
        Abnormal CSF carboxylic acid concentration
        Elevated CSF DOPA concentration

Recent clinical studies

Etiology

A metabolomics study in aqueous humor discloses altered arginine metabolism in Parkinson's disease.

Serrano-Marín J, Marin S, Bernal-Casas D, Lillo A, González-Subías M, Navarro G, Cascante M, Sánchez-Navés J, Franco R
Fluids Barriers CNS 2023 Dec 4;20(1):90. doi: 10.1186/s12987-023-00494-5. PMID: 38049870 Free PMC Article

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency.

Hyodo Y, Akiyama T, Fukuyama T, Mimaki M, Watanabe K, Kumagai T, Kobayashi K
Clin Chim Acta 2022 Sep 1;534:167-172. Epub 2022 Aug 1 doi: 10.1016/j.cca.2022.07.016. PMID: 35926683

Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.

Chen PW, Lee NC, Chien YH, Wu JY, Wang PC, Hwu WL
Clin Chim Acta 2014 Apr 20;431:19-22. Epub 2014 Feb 7 doi: 10.1016/j.cca.2014.01.034. PMID: 24513538

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT
J Inherit Metab Dis 2011 Apr;34(2):529-38. Epub 2011 Feb 9 doi: 10.1007/s10545-011-9279-7. PMID: 21305354

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

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

See all (7)

Diagnosis

A metabolomics study in aqueous humor discloses altered arginine metabolism in Parkinson's disease.

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency.

Hyodo Y, Akiyama T, Fukuyama T, Mimaki M, Watanabe K, Kumagai T, Kobayashi K
Clin Chim Acta 2022 Sep 1;534:167-172. Epub 2022 Aug 1 doi: 10.1016/j.cca.2022.07.016. PMID: 35926683

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT
J Inherit Metab Dis 2011 Apr;34(2):529-38. Epub 2011 Feb 9 doi: 10.1007/s10545-011-9279-7. PMID: 21305354

Increase in salsolinol level in the cerebrospinal fluid of parkinsonian patients is related to dementia: advantage of a new high-performance liquid chromatography methodology.

Antkiewicz-Michaluk L, Krygowska-Wajs A, Szczudlik A, Romańska I, Vetulani J
Biol Psychiatry 1997 Sep 15;42(6):514-8. doi: 10.1016/S0006-3223(96)00408-8. PMID: 9285087

Elevated 5-S-cysteinyldopamine/homovanillic acid ratio and reduced homovanillic acid in cerebrospinal fluid: possible markers for and potential insights into the pathoetiology of Parkinson's disease.

Cheng FC, Kuo JS, Chia LG, Dryhurst G
J Neural Transm (Vienna) 1996;103(4):433-46. doi: 10.1007/BF01276419. PMID: 9617787

See all (10)

Therapy

L-DOPA attenuates prolactin secretion in response to isolation stress in Holstein steers.

Kasuya E, Yayou K, Sutoh M
Anim Sci J 2013 Jul;84(7):562-8. Epub 2013 Jan 27 doi: 10.1111/asj.12037. PMID: 23607456

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT
J Inherit Metab Dis 2011 Apr;34(2):529-38. Epub 2011 Feb 9 doi: 10.1007/s10545-011-9279-7. PMID: 21305354

L-Dopa therapy increases homocysteine concentration in cerebrospinal fluid from patients with Parkinson's disease.

Isobe C, Abe T, Terayama Y
J Clin Neurosci 2010 Jun;17(6):717-21. Epub 2010 Mar 30 doi: 10.1016/j.jocn.2009.09.034. PMID: 20356746

Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.

Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F
J Inherit Metab Dis 2009 Jun;32(3):371-80. Epub 2009 Jan 28 doi: 10.1007/s10545-009-1076-1. PMID: 19172410

Increase in salsolinol level in the cerebrospinal fluid of parkinsonian patients is related to dementia: advantage of a new high-performance liquid chromatography methodology.

Antkiewicz-Michaluk L, Krygowska-Wajs A, Szczudlik A, Romańska I, Vetulani J
Biol Psychiatry 1997 Sep 15;42(6):514-8. doi: 10.1016/S0006-3223(96)00408-8. PMID: 9285087

See all (9)

Prognosis

Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.

Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF
Neuropediatrics 2002 Jun;33(3):113-7. doi: 10.1055/s-2002-33673. PMID: 12200739

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

Interrelationship between activation of dopaminergic pathways and cerebrospinal fluid concentration of dopamine tetrahydroisoquinoline metabolite salsolinol in humans: preliminary findings.

Faraj BA, Camp VM, Kutner M
Alcohol Clin Exp Res 1991 Feb;15(1):86-9. doi: 10.1111/j.1530-0277.1991.tb00522.x. PMID: 2024737

See all (5)