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Disorder of folate metabolism and transport

MedGen UID:
1842423
•Concept ID:
C5681010
•
Disease or Syndrome
Synonym: disorder of folate metabolism and transport
 
Monarch Initiative: MONDO:0017313
Orphanet: ORPHA285657

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
Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder.
Frye RE, Rossignol DA, Scahill L, McDougle CJ, Huberman H, Quadros EV
Semin Pediatr Neurol 2020 Oct;35:100835. Epub 2020 Jun 25 doi: 10.1016/j.spen.2020.100835. PMID: 32892962Free PMC Article
Dextromethorphan is effective in the treatment of subacute methotrexate neurotoxicity.
Drachtman RA, Cole PD, Golden CB, James SJ, Melnyk S, Aisner J, Kamen BA
Pediatr Hematol Oncol 2002 Jul-Aug;19(5):319-27. doi: 10.1080/08880010290057336. PMID: 12078863

Recent clinical studies

Etiology

Vitamin B12 deficiency.
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
The Concept of Folic Acid in Health and Disease.
Shulpekova Y, Nechaev V, Kardasheva S, Sedova A, Kurbatova A, Bueverova E, Kopylov A, Malsagova K, Dlamini JC, Ivashkin V
Molecules 2021 Jun 18;26(12) doi: 10.3390/molecules26123731. PMID: 34207319Free PMC Article
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Spina bifida.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS
Lancet 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X. PMID: 15555669

Diagnosis

Vitamin B12 deficiency.
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Megaloblastic Anemias: Nutritional and Other Causes.
Green R, Datta Mitra A
Med Clin North Am 2017 Mar;101(2):297-317. Epub 2016 Dec 14 doi: 10.1016/j.mcna.2016.09.013. PMID: 28189172
Spina bifida.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS
Lancet 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X. PMID: 15555669

Therapy

Folic acid deficiency and vision: a review.
Sijilmassi O
Graefes Arch Clin Exp Ophthalmol 2019 Aug;257(8):1573-1580. Epub 2019 Mar 27 doi: 10.1007/s00417-019-04304-3. PMID: 30919078
Comprehensive Nutritional and Dietary Intervention for Autism Spectrum Disorder-A Randomized, Controlled 12-Month Trial.
Adams JB, Audhya T, Geis E, Gehn E, Fimbres V, Pollard EL, Mitchell J, Ingram J, Hellmers R, Laake D, Matthews JS, Li K, Naviaux JC, Naviaux RK, Adams RL, Coleman DM, Quig DW
Nutrients 2018 Mar 17;10(3) doi: 10.3390/nu10030369. PMID: 29562612Free PMC Article
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Potential role and therapeutic interests of myo-inositol in metabolic diseases.
Croze ML, Soulage CO
Biochimie 2013 Oct;95(10):1811-27. Epub 2013 Jun 10 doi: 10.1016/j.biochi.2013.05.011. PMID: 23764390
Spina bifida.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS
Lancet 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X. PMID: 15555669

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
Vitamin B12 deficiency.
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Metformin and Breast Cancer: Molecular Targets.
Faria J, Negalha G, Azevedo A, Martel F
J Mammary Gland Biol Neoplasia 2019 Jun;24(2):111-123. Epub 2019 Mar 22 doi: 10.1007/s10911-019-09429-z. PMID: 30903363
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003

Clinical prediction guides

Vitamin B12 deficiency.
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
Folic Acid and Autism: A Systematic Review of the Current State of Knowledge.
Hoxha B, Hoxha M, Domi E, Gervasoni J, Persichilli S, Malaj V, Zappacosta B
Cells 2021 Aug 3;10(8) doi: 10.3390/cells10081976. PMID: 34440744Free PMC Article
The Concept of Folic Acid in Health and Disease.
Shulpekova Y, Nechaev V, Kardasheva S, Sedova A, Kurbatova A, Bueverova E, Kopylov A, Malsagova K, Dlamini JC, Ivashkin V
Molecules 2021 Jun 18;26(12) doi: 10.3390/molecules26123731. PMID: 34207319Free PMC Article
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Mirvetuximab Soravtansine (IMGN853), a Folate Receptor Alpha-Targeting Antibody-Drug Conjugate, Potentiates the Activity of Standard of Care Therapeutics in Ovarian Cancer Models.
Ponte JF, Ab O, Lanieri L, Lee J, Coccia J, Bartle LM, Themeles M, Zhou Y, Pinkas J, Ruiz-Soto R
Neoplasia 2016 Dec;18(12):775-784. Epub 2016 Nov 25 doi: 10.1016/j.neo.2016.11.002. PMID: 27889646Free PMC Article

Recent systematic reviews

Folic Acid and Autism: A Systematic Review of the Current State of Knowledge.
Hoxha B, Hoxha M, Domi E, Gervasoni J, Persichilli S, Malaj V, Zappacosta B
Cells 2021 Aug 3;10(8) doi: 10.3390/cells10081976. PMID: 34440744Free PMC Article
The feasibility of folate receptor alpha- and HER2-targeted intraoperative fluorescence-guided cytoreductive surgery in women with epithelial ovarian cancer: A systematic review.
de Jong JM, Hoogendam JP, Braat AJAT, Zweemer RP, Gerestein CG
Gynecol Oncol 2021 Aug;162(2):517-525. Epub 2021 May 28 doi: 10.1016/j.ygyno.2021.05.017. PMID: 34053747

Supplemental Content

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    Clinical resources

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