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Increased CSF phenylalanine concentration

MedGen UID:
1692227
•Concept ID:
C5139608
•
Finding
Synonym: High phenylalanine levels in cerebrospinal fluid
 
HPO: HP:0500223

Definition

Abnormally increased levels of phenylalanine in cerebrospinal fluid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased CSF phenylalanine concentration

Conditions with this feature

GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MedGen UID:
988270
•Concept ID:
CN305333
•
Disease or Syndrome
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
See: Condition Record
GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Professional guidelines

PubMed

Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease.
Imarisio A, Yahyavi I, Avenali M, Di Maio A, Buongarzone G, Galandra C, Picascia M, Filosa A, Gasparri C, Monti MC, Rondanelli M, Pacchetti C, Errico F, Valente EM, Usiello A
Neurobiol Dis 2024 Mar;192:106413. Epub 2024 Jan 20 doi: 10.1016/j.nbd.2024.106413. PMID: 38253208
Adrenal medullary transplantation into the brain for treatment of Parkinson's disease: clinical outcome and neurochemical studies.
Ahlskog JE, Kelly PJ, van Heerden JA, Stoddard SL, Tyce GM, Windebank AJ, Bailey PA, Bell GN, Blexrud MD, Carmichael SW
Mayo Clin Proc 1990 Mar;65(3):305-28. doi: 10.1016/s0025-6196(12)62532-4. PMID: 2314121

Recent clinical studies

Etiology

Homovanillic acid in CSF of mild stage Parkinson's disease patients correlates with motor impairment.
Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
Increased CSF levels of aromatic amino acids in hip fracture patients with delirium suggests higher monoaminergic activity.
Watne LO, Idland AV, Fekkes D, Raeder J, Frihagen F, Ranhoff AH, Chaudhry FA, Engedal K, Wyller TB, Hassel B
BMC Geriatr 2016 Aug 2;16:149. doi: 10.1186/s12877-016-0324-0. PMID: 27484129Free PMC Article
Tyrosine metabolism during interferon-alpha administration: association with fatigue and CSF dopamine concentrations.
Felger JC, Li L, Marvar PJ, Woolwine BJ, Harrison DG, Raison CL, Miller AH
Brain Behav Immun 2013 Jul;31:153-60. Epub 2012 Oct 13 doi: 10.1016/j.bbi.2012.10.010. PMID: 23072726Free PMC Article
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
Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria.
Lou HC, Lykkelund C, Gerdes AM, Udesen H, Bruhn P
Acta Paediatr Scand 1987 Jul;76(4):560-5. doi: 10.1111/j.1651-2227.1987.tb10521.x. PMID: 2442957

Diagnosis

Neutrophil extracellular traps and neutrophil-derived mediators as possible biomarkers in bronchial asthma.
Varricchi G, Modestino L, Poto R, Cristinziano L, Gentile L, Postiglione L, Spadaro G, Galdiero MR
Clin Exp Med 2022 May;22(2):285-300. Epub 2021 Aug 3 doi: 10.1007/s10238-021-00750-8. PMID: 34342773Free PMC Article
Homovanillic acid in CSF of mild stage Parkinson's disease patients correlates with motor impairment.
Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
Increased CSF levels of aromatic amino acids in hip fracture patients with delirium suggests higher monoaminergic activity.
Watne LO, Idland AV, Fekkes D, Raeder J, Frihagen F, Ranhoff AH, Chaudhry FA, Engedal K, Wyller TB, Hassel B
BMC Geriatr 2016 Aug 2;16:149. doi: 10.1186/s12877-016-0324-0. PMID: 27484129Free PMC Article
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M
J Inherit Metab Dis 2001 Jun;24(3):352-8. doi: 10.1023/a:1010596317296. PMID: 11486900
On the brain barrier system function and changes of cerebrospinal fluid concentrations of phenylalanine and tyrosine in human phenylketonuria.
Ratzmann GW, Grimm U, Jährig K, Knapp A
Biomed Biochim Acta 1984;43(2):197-204. PMID: 6732755

Therapy

Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease.
Imarisio A, Yahyavi I, Avenali M, Di Maio A, Buongarzone G, Galandra C, Picascia M, Filosa A, Gasparri C, Monti MC, Rondanelli M, Pacchetti C, Errico F, Valente EM, Usiello A
Neurobiol Dis 2024 Mar;192:106413. Epub 2024 Jan 20 doi: 10.1016/j.nbd.2024.106413. PMID: 38253208
ATP13A2 levels in serum and cerebrospinal fluid in patients with idiopathic Parkinson's disease.
Fernández-Espejo E, Rodriguez de Fonseca F, Suárez J, González-Aparicio R, Santurtún A
Parkinsonism Relat Disord 2021 Jul;88:3-9. Epub 2021 May 26 doi: 10.1016/j.parkreldis.2021.05.014. PMID: 34090180
Homovanillic acid in CSF of mild stage Parkinson's disease patients correlates with motor impairment.
Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.
Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A
Mol Genet Metab 2015 Jan;114(1):34-40. Epub 2014 Oct 31 doi: 10.1016/j.ymgme.2014.10.014. PMID: 25468651
CSF studies on the relationship between dopamine and 5-hydroxytryptamine in Parkinsonism and other movement disorders.
Davidson DL, Yates CM, Mawdsley C, Pullar IA, Wilson H
J Neurol Neurosurg Psychiatry 1977 Dec;40(12):1136-41. doi: 10.1136/jnnp.40.12.1136. PMID: 591981Free PMC Article

Prognosis

Effect of a Peptide Construct on Differentiated Macrophage MMP-2 and MMP-9 Levels of Varicose Patients.
Esfandiari G, Biranvand AS, Poursaleh A, Kakavandi N, Fattahi F, Ghasempour G, Bahraini E, Khosravi M, Najafi M
Curr Pharm Des 2019;25(40):4303-4309. doi: 10.2174/1381612825666191029105203. PMID: 31663473
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
Activation and priming of human monocytes by monocyte chemotactic activating factor: cooperation with other inflammatory cytokines and close association between an increase in cytoplasmic free Ca2+ and intracellular acidification.
Azuma EK, Yuo A, Matsushima T, Kasahara T, Mizoguchi H, Saito M, Takaku F, Kitagawa S
Exp Hematol 1996 Feb;24(2):169-75. PMID: 8641338
Agonist-stimulated Cl- efflux from human neutrophils. A common phenomenon during neutrophil activation.
Shimizu Y, Daniels RH, Elmore MA, Finnen MJ, Hill ME, Lackie JM
Biochem Pharmacol 1993 May 5;45(9):1743-51. doi: 10.1016/0006-2952(93)90429-z. PMID: 8494532
Stimulation and priming of human neutrophils by interleukin-8: cooperation with tumor necrosis factor and colony-stimulating factors.
Yuo A, Kitagawa S, Kasahara T, Matsushima K, Saito M, Takaku F
Blood 1991 Nov 15;78(10):2708-14. PMID: 1726709

Clinical prediction guides

ATP13A2 levels in serum and cerebrospinal fluid in patients with idiopathic Parkinson's disease.
Fernández-Espejo E, Rodriguez de Fonseca F, Suárez J, González-Aparicio R, Santurtún A
Parkinsonism Relat Disord 2021 Jul;88:3-9. Epub 2021 May 26 doi: 10.1016/j.parkreldis.2021.05.014. PMID: 34090180
Homovanillic acid in CSF of mild stage Parkinson's disease patients correlates with motor impairment.
Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
CSF and plasma concentrations of free norepinephrine, dopamine, 3,4-dihydroxyphenylacetic acid (DOPAC), 3,4-dihydroxyphenylalanine (DOPA), and epinephrine in Parkinson's disease.
Eldrup E, Mogensen P, Jacobsen J, Pakkenberg H, Christensen NJ
Acta Neurol Scand 1995 Aug;92(2):116-21. doi: 10.1111/j.1600-0404.1995.tb01023.x. PMID: 7484057
Modulation of eosinophil chemotaxis by interleukin-5.
Warringa RA, Schweizer RC, Maikoe T, Kuijper PH, Bruijnzeel PL, Koendermann L
Am J Respir Cell Mol Biol 1992 Dec;7(6):631-6. doi: 10.1165/ajrcmb/7.6.631. PMID: 1449809
Tetrahydrobiopterin and Parkinson's disease.
Dissing IC, Güttler F, Pakkenberg H, Lou H, Gerdes AM, Lykkelund C, Rasmussen V
Acta Neurol Scand 1989 Jun;79(6):493-9. doi: 10.1111/j.1600-0404.1989.tb03820.x. PMID: 2476906

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