메뉴 건너뛰기




Volumn 24, Issue , 2015, Pages 91-96

CSF 5-methyltetrahydrofolate serial monitoring to guide treatment of congenital folate malabsorption due to proton-coupled folate transporter (PCFT) deficiency

Author keywords

Cerebral folate deficiency; CSF 5 methyltetrahydrofolate serial monitoring; Folinic acid treatment

Indexed keywords


EID: 84961310521     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_445     Document Type: Chapter
Times cited : (25)

References (54)
  • 1
    • 77958027532 scopus 로고    scopus 로고
    • Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption
    • Atabay B, Turker M, Ozer EA, Mahadeo K, Diop-Bove N, Goldman ID (2010) Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption. Pediatr Hematol Oncol 27(8):614–619
    • (2010) Pediatr Hematol Oncol , vol.27 , Issue.8 , pp. 614-619
    • Atabay, B.1    Turker, M.2    Ozer, E.A.3    Mahadeo, K.4    Diop-Bove, N.5    Goldman, I.D.6
  • 4
    • 65349184445 scopus 로고    scopus 로고
    • Addressing a folate imbalance in fetal cerebrospinal fluid can decrease the incidence of congenital hydrocephalus
    • Cains S, Shepherd A, Nabiuni M, Owen-Lynch PJ, Miyan J (2009) Addressing a folate imbalance in fetal cerebrospinal fluid can decrease the incidence of congenital hydrocephalus. J Neuropathol Exp Neurol 68:404–416
    • (2009) J Neuropathol Exp Neurol , vol.68 , pp. 404-416
    • Cains, S.1    Shepherd, A.2    Nabiuni, M.3    Owen-Lynch, P.J.4    Miyan, J.5
  • 5
    • 0016776330 scopus 로고
    • Folate transport in the choroid plexus
    • Chen C, Wagner C (1975) Folate transport in the choroid plexus. Life Sci 2049–2064
    • (1975) Life Sci , pp. 2049-2064
    • Chen, C.1    Wagner, C.2
  • 8
    • 84881549110 scopus 로고    scopus 로고
    • A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLCA6A1) in a Nicaraguan child with hereditary folate malabsorption
    • Diop-Bove N, Jain M, Scaglia F, Goldman ID (2013) A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLCA6A1) in a Nicaraguan child with hereditary folate malabsorption. Gene 527(2):673–674
    • (2013) Gene , vol.527 , Issue.2 , pp. 673-674
    • Diop-Bove, N.1    Jain, M.2    Scaglia, F.3    Goldman, I.D.4
  • 9
    • 36049049394 scopus 로고    scopus 로고
    • Folate-responsive neurological diseases
    • Djukic A (2007) Folate-responsive neurological diseases. Pediatr Neurol 37:387–397
    • (2007) Pediatr Neurol , vol.37 , pp. 387-397
    • Djukic, A.1
  • 12
    • 0036143484 scopus 로고    scopus 로고
    • Hereditary folate malabsorption: Family report and review of the literature
    • Geller J, Kronn D, Jayabose S, Sandoval C (2002) Hereditary folate malabsorption: family report and review of the literature. Medicine (Baltimore) 81:51–68
    • (2002) Medicine (Baltimore) , vol.81 , pp. 51-68
    • Geller, J.1    Kronn, D.2    Jayabose, S.3    Sandoval, C.4
  • 13
    • 33646819033 scopus 로고    scopus 로고
    • A folate-and methyl-deficient diet alters the expression of DNA methyltransferases and methyl CpG binding proteins involved in epigenetic gene silencing in livers of F344 rats
    • Ghoshal K, Li X, Datta J, Bai S, Pogribny I, Pogribny M, Huang Y, Young D, Jacob ST (2006) A folate-and methyl-deficient diet alters the expression of DNA methyltransferases and methyl CpG binding proteins involved in epigenetic gene silencing in livers of F344 rats. J Nutr 136:1522–1527
    • (2006) J Nutr , vol.136 , pp. 1522-1527
    • Ghoshal, K.1    Li, X.2    Datta, J.3    Bai, S.4    Pogribny, I.5    Pogribny, M.6    Huang, Y.7    Young, D.8    Jacob, S.T.9
  • 14
    • 0032937408 scopus 로고    scopus 로고
    • Folate deficiency beyond megaloblastic anemia: Hyperhomocysteinemia and other manifestations of dysfunctional folate status
    • Green R, Miller J (1999) Folate deficiency beyond megaloblastic anemia: hyperhomocysteinemia and other manifestations of dysfunctional folate status. Semin Hematol 36:47–64
    • (1999) Semin Hematol , vol.36 , pp. 47-64
    • Green, R.1    Miller, J.2
  • 15
    • 15244357245 scopus 로고    scopus 로고
    • Cerebral folate deficiency: Life-changing supplementation with folinic acid
    • Hansen FJ, Blau N (2005) Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab 84:371–373
    • (2005) Mol Genet Metab , vol.84 , pp. 371-373
    • Hansen, F.J.1    Blau, N.2
  • 16
    • 0025336152 scopus 로고
    • Folate-binding proteins
    • Henderson GB (1990) Folate-binding proteins. Annu Rev Nutr 10: 319–335
    • (1990) Annu Rev Nutr , vol.10 , pp. 319-335
    • Henderson, G.B.1
  • 17
    • 0026049546 scopus 로고
    • High-affinity folate binding in human choroid plexus: Characterization of radioligand binding, immunoreactivity, molecular heterogeneity and hydrophobic domain of the binding protein
    • Holm J, Hansen SI, Hoier-Madsen M, Bostad L (1991) High-affinity folate binding in human choroid plexus: characterization of radioligand binding, immunoreactivity, molecular heterogeneity and hydrophobic domain of the binding protein. Biochem J 280: 267–271
    • (1991) Biochem J , vol.280 , pp. 267-271
    • Holm, J.1    Hansen, S.I.2    Hoier-Madsen, M.3    Bostad, L.4
  • 21
    • 0014591579 scopus 로고
    • Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification
    • Lanzkowsky P, Erlandson ME, Bezan AI (1969) Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood 34:452–465
    • (1969) Blood , vol.34 , pp. 452-465
    • Lanzkowsky, P.1    Erlandson, M.E.2    Bezan, A.I.3
  • 22
    • 52649117496 scopus 로고    scopus 로고
    • A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function
    • Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen F, Drori S, Assaraf YG (2008) A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Blood 112:2055–2061
    • (2008) Blood , vol.112 , pp. 2055-2061
    • Lasry, I.1    Berman, B.2    Straussberg, R.3    Sofer, Y.4    Bessler, H.5    Sharkia, M.6    Glaser, F.7    Jansen, F.8    Drori, S.9    Assaraf, Y.G.10
  • 23
    • 0015071735 scopus 로고
    • Transport characteristics of folates in cerebrospinal fluid; a study utilizing doubly labeled 5-methyltetrahydrofolate and 5-formyltetrahydro-folate
    • Levitt M, Nixon PF, Pincus JH, Bertino JR (1971) Transport characteristics of folates in cerebrospinal fluid; a study utilizing doubly labeled 5-methyltetrahydrofolate and 5-formyltetrahydro-folate. J Clin Invest 50:1301–1308
    • (1971) J Clin Invest , vol.50 , pp. 1301-1308
    • Levitt, M.1    Nixon, P.F.2    Pincus, J.H.3    Bertino, J.R.4
  • 24
    • 59849122714 scopus 로고    scopus 로고
    • Folate deficiency induces genomic uracil misincorporation and hypomethylation but does not increase DNA point mutations
    • Linhart HG, Troen A, Bell GW, Cantu E, Chao WH, Moran E, Steine E, He T, Jaenisch R (2008) Folate deficiency induces genomic uracil misincorporation and hypomethylation but does not increase DNA point mutations. Gastroenterology 136:227–235
    • (2008) Gastroenterology , vol.136 , pp. 227-235
    • Linhart, H.G.1    Troen, A.2    Bell, G.W.3    Cantu, E.4    Chao, W.H.5    Moran, E.6    Steine, E.7    He, T.8    Jaenisch, R.9
  • 25
    • 0007759545 scopus 로고
    • Relapsing megaloblastic anemia in an infant due to a specific defect in gastrointestinal absorption of folic acid
    • Lubhy AL, Eagle FJ, Roth E, Cooperman JM (1961) Relapsing megaloblastic anemia in an infant due to a specific defect in gastrointestinal absorption of folic acid. Am J Dis Child 102: 482–483
    • (1961) Am J Dis Child , vol.102 , pp. 482-483
    • Lubhy, A.L.1    Eagle, F.J.2    Roth, E.3    Cooperman, J.M.4
  • 27
    • 0032732594 scopus 로고    scopus 로고
    • Isolated congenital malabsorption of folic acid in a male infant: Insights into treatment and mechanism of defect
    • Malatack JJ, Moran MM, Moughan B (1999) Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect. Pediatrics 104(5 Pt 1):1133–1137
    • (1999) Pediatrics , vol.104 , Issue.5 , pp. 1133-1137
    • Malatack, J.J.1    Moran, M.M.2    Moughan, B.3
  • 28
    • 0041305877 scopus 로고    scopus 로고
    • Membrane transport of folates
    • Matherly LH, Goldman DI (2003) Membrane transport of folates. Vitam Horm 66:403–456
    • (2003) Vitam Horm , vol.66 , pp. 403-456
    • Matherly, L.H.1    Goldman, D.I.2
  • 29
    • 49349106476 scopus 로고    scopus 로고
    • The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption
    • Min SH, Oh SY, Karp GI, Poncz M, Zhao R, Goldman ID (2008) The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption. J Pediatr 153(3):435–437. doi:10.1016/j.jpeds.2008
    • (2008) J Pediatr , vol.153 , Issue.3 , pp. 435-437
    • Min, S.H.1    Oh, S.Y.2    Karp, G.I.3    Poncz, M.4    Zhao, R.5    Goldman, I.D.6
  • 30
    • 0018743659 scopus 로고
    • Persistence of neutrophil hyper-segmentation during recovery from megaloblastic granulopoiesis
    • Nath BJ, Lindebaum J (1979) Persistence of neutrophil hyper-segmentation during recovery from megaloblastic granulopoiesis. Ann Intern Med 90:757–760
    • (1979) Ann Intern Med , vol.90 , pp. 757-760
    • Nath, B.J.1    Lindebaum, J.2
  • 31
    • 53149144633 scopus 로고    scopus 로고
    • Epigenetic alterations in the brains of Fisher 344 rats induced by long-term administration of folate/methyl-deficient diet
    • Pogribny IP, Karpf AR, James SR, Melnyk S, Han T, Tryndyak VP (2008) Epigenetic alterations in the brains of Fisher 344 rats induced by long-term administration of folate/methyl-deficient diet. Brain Res 1237:25–34
    • (2008) Brain Res , vol.1237 , pp. 25-34
    • Pogribny, I.P.1    Karpf, A.R.2    James, S.R.3    Melnyk, S.4    Han, T.5    Tryndyak, V.P.6
  • 33
    • 33751244559 scopus 로고    scopus 로고
    • Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption
    • Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C (2006) Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell 127(5):917–928
    • (2006) Cell , vol.127 , Issue.5 , pp. 917-928
    • Qiu, A.1    Jansen, M.2    Sakaris, A.3    Min, S.H.4    Chattopadhyay, S.5    Tsai, E.6    Sandoval, C.7
  • 35
    • 0001912321 scopus 로고    scopus 로고
    • Inherited disorders of folate and cobalamin transport and metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, McGraw-Hill, New York
    • Rosenblatt DS, Fenton WA (2001) Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3897–3933
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3897-3933
    • Rosenblatt, D.S.1    Fenton, W.A.2
  • 38
    • 79955149687 scopus 로고    scopus 로고
    • Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption
    • Shin DS, Mahadeo K, Min SH, Diop-Bove N, Clayton P, Zhao R, Goldman ID (2011) Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. Mol Genet Metab 103:33–37
    • (2011) Mol Genet Metab , vol.103 , pp. 33-37
    • Shin, D.S.1    Mahadeo, K.2    Min, S.H.3    Diop-Bove, N.4    Clayton, P.5    Zhao, R.6    Goldman, I.D.7
  • 39
    • 33745145431 scopus 로고    scopus 로고
    • Distinct effects of folate and choline deficiency on plasma kinetics of methionine and homocysteine in rats
    • Shinohara Y, Hasegawa H, Ogawa K, Tagoku K, Hashimoto T (2006) Distinct effects of folate and choline deficiency on plasma kinetics of methionine and homocysteine in rats. Metabolism 55:899–906
    • (2006) Metabolism , vol.55 , pp. 899-906
    • Shinohara, Y.1    Hasegawa, H.2    Ogawa, K.3    Tagoku, K.4    Hashimoto, T.5
  • 40
    • 34447114975 scopus 로고    scopus 로고
    • Neurological manifestations of folate transport defect: Case report and review of the literature
    • Sofer Y, Harel L, Sharkia M, Amir J, Schoenfeld T, Straussberg R (2007) Neurological manifestations of folate transport defect: case report and review of the literature. J Child Neurol 22: 783–786
    • (2007) J Child Neurol , vol.22 , pp. 783-786
    • Sofer, Y.1    Harel, L.2    Sharkia, M.3    Amir, J.4    Schoenfeld, T.5    Straussberg, R.6
  • 42
    • 0017305625 scopus 로고
    • Congenital folate deficiency
    • Su PC (1976) Congenital folate deficiency. New Engl J Med 294:1128
    • (1976) New Engl J Med , vol.294 , pp. 1128
    • Su, P.C.1
  • 43
    • 0019407313 scopus 로고
    • Partial purification and characterization of a folate binding protein from human choroid plexus
    • Suleiman SA, Spector R, Cancilla P (1981) Partial purification and characterization of a folate binding protein from human choroid plexus. Neurochem Res 6:331–341
    • (1981) Neurochem Res , vol.6 , pp. 331-341
    • Suleiman, S.A.1    Spector, R.2    Cancilla, P.3
  • 44
    • 9244222563 scopus 로고    scopus 로고
    • Cobalamin and folate responsive disorders
    • Baxter P, International review of child neurology series. Mac Keith, London
    • Surtees R (2001) Cobalamin and folate responsive disorders. In: Baxter P (ed) Vitamin responsive conditions in pediatric neurology, International review of child neurology series. Mac Keith, London, pp 96–108
    • (2001) Vitamin Responsive Conditions in Pediatric Neurology , pp. 96-108
    • Surtees, R.1
  • 45
    • 0027260486 scopus 로고
    • Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain
    • Surtees R, Heales S, Bowron A (1993) Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain. J Inherit Metab Dis 16:762–770
    • (1993) J Inherit Metab Dis , vol.16 , pp. 762-770
    • Surtees, R.1    Heales, S.2    Bowron, A.3
  • 47
    • 84919418572 scopus 로고    scopus 로고
    • The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1
    • Wang Q, Li X, Ding Y, Liu Y, Qin Y, Yang Y (2014) The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1. Brain Dev. doi:10.1016/j.brain-dev.2014.01.010
    • (2014) Brain Dev
    • Wang, Q.1    Li, X.2    Ding, Y.3    Liu, Y.4    Qin, Y.5    Yang, Y.6
  • 48
    • 33745146118 scopus 로고    scopus 로고
    • Acquired and inherited disorders of cobalamin and folate in children
    • Whitehead VM (2006) Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol 134(2):125–136
    • (2006) Br J Haematol , vol.134 , Issue.2 , pp. 125-136
    • Whitehead, V.M.1
  • 49
    • 0042062309 scopus 로고    scopus 로고
    • Single oral doses of 13C forms of pteroylmonoglutamic acid and 5-formyltetra-hydrofolic acid elicit differences in short-term kinetics of labelled and unlabelled folates in plasma: Potential problems in interpretation of bioavailability studies
    • Wright AJ, Finglas PM, Dainty JR et al (2003) Single oral doses of 13C forms of pteroylmonoglutamic acid and 5-formyltetra-hydrofolic acid elicit differences in short-term kinetics of labelled and unlabelled folates in plasma: potential problems in interpretation of bioavailability studies. Br J Nutr 90:363–371
    • (2003) Br J Nutr , vol.90 , pp. 363-371
    • Wright, A.J.1    Finglas, P.M.2    Dainty, J.R.3
  • 50
    • 0032938097 scopus 로고    scopus 로고
    • Blood–brain barrier transport of reduced folic acid
    • Wu D, Pardridge WM (1999) Blood–brain barrier transport of reduced folic acid. Pharm Res 16:415–419
    • (1999) Pharm Res , vol.16 , pp. 415-419
    • Wu, D.1    Pardridge, W.M.2
  • 51
    • 34548026299 scopus 로고    scopus 로고
    • The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption
    • Zhao R, Min SH, Qiu A, Sakaris A, Goldberg GL, Sandoval C, Malatack JJ, Rosenblatt DS, Goldman ID (2007) The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood 110:1147–1152
    • (2007) Blood , vol.110 , pp. 1147-1152
    • Zhao, R.1    Min, S.H.2    Qiu, A.3    Sakaris, A.4    Goldberg, G.L.5    Sandoval, C.6    Malatack, J.J.7    Rosenblatt, D.S.8    Goldman, I.D.9
  • 52
    • 63249102414 scopus 로고    scopus 로고
    • A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis
    • Zhao R, Min SH, Wang Y, Campanella E, Low PS, Goldman ID (2009) A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis. J Biol Chem 284:4267–4274
    • (2009) J Biol Chem , vol.284 , pp. 4267-4274
    • Zhao, R.1    Min, S.H.2    Wang, Y.3    Campanella, E.4    Low, P.S.5    Goldman, I.D.6
  • 53
    • 84866352751 scopus 로고    scopus 로고
    • Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proto-coupled folate transporter (PCFT-SLC46A1)
    • Zhao R, Akabas MH, Goldman ID (2012) Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proto-coupled folate transporter (PCFT-SLC46A1). Am J Physiol Cell Physiol 303(6):C673–C681
    • (2012) Am J Physiol Cell Physiol , vol.303 , Issue.6 , pp. C673-C681
    • Zhao, R.1    Akabas, M.H.2    Goldman, I.D.3
  • 54
    • 0032937407 scopus 로고    scopus 로고
    • Modern clinical testing strategies in cobalamin and folate deficiency
    • Zittoun J, Zittoun R (1999) Modern clinical testing strategies in cobalamin and folate deficiency. Semin Hematol 36:35–46
    • (1999) Semin Hematol , vol.36 , pp. 35-46
    • Zittoun, J.1    Zittoun, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.