U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Folate deficiency in CSF

MedGen UID:
1671007
Concept ID:
C4732847
Finding
Synonym: Folate deficiency in cerebrospinal fluid
 
HPO: HP:0410209

Definition

A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFolate deficiency in CSF

Professional guidelines

PubMed

Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Ramaekers VT, Sequeira JM, Quadros EV
Biochimie 2016 Jul;126:79-90. Epub 2016 Apr 8 doi: 10.1016/j.biochi.2016.04.005. PMID: 27068282

Recent clinical studies

Etiology

Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Masingue M, Benoist JF, Roze E, Moussa F, Sedel F, Lubetzki C, Nadjar Y
J Neurol Sci 2019 Jan 15;396:112-118. Epub 2018 Nov 10 doi: 10.1016/j.jns.2018.11.014. PMID: 30448717
Ramaekers V, Sequeira JM, Quadros EV
Clin Chem Lab Med 2013 Mar 1;51(3):497-511. doi: 10.1515/cclm-2012-0543. PMID: 23314536
Hyland K, Shoffner J, Heales SJ
J Inherit Metab Dis 2010 Oct;33(5):563-70. Epub 2010 Jul 29 doi: 10.1007/s10545-010-9159-6. PMID: 20668945
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Diagnosis

Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Ramaekers V, Sequeira JM, Quadros EV
Clin Chem Lab Med 2013 Mar 1;51(3):497-511. doi: 10.1515/cclm-2012-0543. PMID: 23314536
Hyland K, Shoffner J, Heales SJ
J Inherit Metab Dis 2010 Oct;33(5):563-70. Epub 2010 Jul 29 doi: 10.1007/s10545-010-9159-6. PMID: 20668945
Ramaekers VT, Blau N
Dev Med Child Neurol 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. PMID: 15581159

Therapy

Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Ramaekers V, Sequeira JM, Quadros EV
Clin Chem Lab Med 2013 Mar 1;51(3):497-511. doi: 10.1515/cclm-2012-0543. PMID: 23314536
Hyland K, Shoffner J, Heales SJ
J Inherit Metab Dis 2010 Oct;33(5):563-70. Epub 2010 Jul 29 doi: 10.1007/s10545-010-9159-6. PMID: 20668945
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Prognosis

Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Masingue M, Benoist JF, Roze E, Moussa F, Sedel F, Lubetzki C, Nadjar Y
J Neurol Sci 2019 Jan 15;396:112-118. Epub 2018 Nov 10 doi: 10.1016/j.jns.2018.11.014. PMID: 30448717
Shoffner J, Trommer B, Thurm A, Farmer C, Langley WA 3rd, Soskey L, Rodriguez AN, D'Souza P, Spence SJ, Hyland K, Swedo SE
Neurology 2016 Jun 14;86(24):2258-63. Epub 2016 May 13 doi: 10.1212/WNL.0000000000002766. PMID: 27178705Free PMC Article
Ramaekers V, Sequeira JM, Quadros EV
Clin Chem Lab Med 2013 Mar 1;51(3):497-511. doi: 10.1515/cclm-2012-0543. PMID: 23314536
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Clinical prediction guides

Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R
J Inherit Metab Dis 2018 Nov;41(6):1147-1158. Epub 2018 Jul 4 doi: 10.1007/s10545-018-0224-x. PMID: 29974349
Shoffner J, Trommer B, Thurm A, Farmer C, Langley WA 3rd, Soskey L, Rodriguez AN, D'Souza P, Spence SJ, Hyland K, Swedo SE
Neurology 2016 Jun 14;86(24):2258-63. Epub 2016 May 13 doi: 10.1212/WNL.0000000000002766. PMID: 27178705Free PMC Article
Ramaekers VT, Blau N
Dev Med Child Neurol 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. PMID: 15581159
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Recent systematic reviews

Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R
J Inherit Metab Dis 2018 Nov;41(6):1147-1158. Epub 2018 Jul 4 doi: 10.1007/s10545-018-0224-x. PMID: 29974349

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...