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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

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Cerebral folate deficiency: Analytical tests and differential diagnosis.
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
The basis for folinic acid treatment in neuro-psychiatric disorders.
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

Blood-brain barrier dysfunction and folate and vitamin B12 levels in first-episode schizophrenia-spectrum psychosis: a retrospective chart review.
Campana M, Löhrs L, Strauß J, Münz S, Oviedo-Salcedo T, Fernando P, Maurus I, Raabe F, Moussiopoulou J, Eichhorn P, Falkai P, Hasan A, Wagner E
Eur Arch Psychiatry Clin Neurosci 2023 Dec;273(8):1693-1701. Epub 2023 Mar 4 doi: 10.1007/s00406-023-01572-3. PMID: 36869234Free PMC Article
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Clinical recognition and aspects of the cerebral folate deficiency syndromes.
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
Cerebral folate deficiency.
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
Vitamin neurotoxicity.
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Diagnosis

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Cerebral folate deficiency: Analytical tests and differential diagnosis.
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
Cerebral folate deficiency.
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
Cerebral folate deficiency.
Ramaekers VT, Blau N
Dev Med Child Neurol 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. PMID: 15581159
Folate responsive neuropathy.
Parry TE
Presse Med 1994 Jan 29;23(3):131-7. PMID: 8177846

Therapy

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Cerebral folate deficiency: Analytical tests and differential diagnosis.
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
Cerebral folate deficiency.
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
Folate responsive neuropathy.
Parry TE
Presse Med 1994 Jan 29;23(3):131-7. PMID: 8177846
Vitamin neurotoxicity.
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Prognosis

Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT, Quadros EV
Nutrients 2022 Jul 28;14(15) doi: 10.3390/nu14153096. PMID: 35956272Free PMC Article
Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition.
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
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism.
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
Clinical recognition and aspects of the cerebral folate deficiency syndromes.
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
Vitamin neurotoxicity.
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Clinical prediction guides

Cerebral folate deficiency: Analytical tests and differential diagnosis.
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
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
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
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism.
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
Cerebral folate deficiency.
Ramaekers VT, Blau N
Dev Med Child Neurol 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. PMID: 15581159
Vitamin neurotoxicity.
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Recent systematic reviews

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
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

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