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

JIMD Reports

Volumn 24, Issue , 2015, Pages 91-96

  Torres, A ^a   Newton, S A ^b   Crompton, B ^b   Borzutzky, A ^b   Neufeld, E J ^b   Notarangelo, L ^b   Berry, G T ^b  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

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

References (54)

1. 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
2. Blount BC, Mack MM, Wehr CM, MacGregor JT, Hiatt RA, Wang G, Wickramasinghe SN, Everson RB, Ames BN (1997) Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc Natl Acad Sci U S A 94:3290–3295
3. Borzutzky A, Crompton B, Bergamm AK, Giliani S, Baxi S, Martin M, Neufeld EJ, Notarangelo LD (2009) Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol 133(3):287–294
4. 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
5. Chen C, Wagner C (1975) Folate transport in the choroid plexus. Life Sci 2049–2064
6. Corbeel L, Van den Berghe G, Jaeken J, Van Tornout J, Eeckels R (1985) Congenital folate malabsorption. Eur J Pedoatr 143(4): 284–290
7. Diop-Bove N, Kronn D, Goldman D (1993–2014) Gene reviews® [Internet]. University of Washington, Seattle, WA
8. 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
9. Djukic A (2007) Folate-responsive neurological diseases. Pediatr Neurol 37:387–397
10. Fernandes J, Saudubary JM, Den Berghe V (2012) Inborn metabolic diseases. Springer, Heidelberg
11. Fournier I, Ploye F, Cottet-Emard JM, Brun J, Claustrat B (2002) Folate deficiency alters melatonin secretion in rats. J Nutr 132:2781–2784
12. Geller J, Kronn D, Jayabose S, Sandoval C (2002) Hereditary folate malabsorption: family report and review of the literature. Medicine (Baltimore) 81:51–68
13. 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
14. Green R, Miller J (1999) Folate deficiency beyond megaloblastic anemia: hyperhomocysteinemia and other manifestations of dysfunctional folate status. Semin Hematol 36:47–64
15. Hansen FJ, Blau N (2005) Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab 84:371–373
16. Henderson GB (1990) Folate-binding proteins. Annu Rev Nutr 10: 319–335
17. 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
18. Jebnoun S, Kacem S, Mokrani C, Chabchoub A, Khrouf N, Zittoun J (2001) A family study of congenital malabsorption of folate. J Inherit Metab Dis 24:749–750
19. Kishimoto K, Kobayashi R, Sano H, Suzuki D, Maruoka H, Yasuda K, Chida N, Yamada M, Kobayashi K (2014) Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption. Clin Immunol 153(1):17–22. doi:10.1006/j.clim.2014.03.014
20. Kronenberg G, Harms C, Sobol RW, Cardozo-Pelaez F, Linhart H, Winter B, Balkaya M, Gertz K, Gay SB, Cox D (2008) Folate deficiency induces neurodegeneration and brain dysfunction in mice lacking uracil DNA glycosylase. J Neurosci 28:7219–7230
21. Lanzkowsky P, Erlandson ME, Bezan AI (1969) Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood 34:452–465
22. 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
23. 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
24. 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
25. 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
26. Mahadeo K, Min SH, Diop-Bove NK, Kronn D, Goldman ID (2010) Gene reviews [Internet], updated 2010 May 06. University of Washington, Seattle, WA
27. 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
28. Matherly LH, Goldman DI (2003) Membrane transport of folates. Vitam Horm 66:403–456
29. 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
30. Nath BJ, Lindebaum J (1979) Persistence of neutrophil hyper-segmentation during recovery from megaloblastic granulopoiesis. Ann Intern Med 90:757–760
31. 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
32. Ponz M, Colman L, Herbert V, Schwartz E, Cohen AR (1898) Therapy of congenital folate malabsorption. J Pediatr 98(1):76–79
33. 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
34. Ramaekers VT, Blau N (2004) Cerebral folate deficiency. Dev Med Child Neurol 46:843–851
35. 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
36. Santiago-Borrero PJ, Santini R Jr, Perez-Santiago E, Maldonado NI (1973) Congenital isolated defect of folic acid absorption. J Pediatr 82:450–455
37. Scriver AL, Beaudet WS, Sly D, Valle CR (1995) The metabolic and molecular bases of inherited disease, vol 3, 7th edn. McGraw Hill, New York
38. 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
39. 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
40. 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
41. Steinschneider M, Sherbany A, Pavlakis S, Emerson R, Lovelace R, De Vivo DC (1990) Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities. Neurology 40: 1315
42. Su PC (1976) Congenital folate deficiency. New Engl J Med 294:1128
43. 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
44. 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
45. 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
46. Urbach J, Abrahamov A, Grossowicz N (1987) Congenital isolated folic acid malabsorption. Arch Dis Child 62:78–80
47. 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
48. Whitehead VM (2006) Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol 134(2):125–136
49. 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
50. Wu D, Pardridge WM (1999) Blood–brain barrier transport of reduced folic acid. Pharm Res 16:415–419
51. 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
52. 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
53. 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
54. Zittoun J, Zittoun R (1999) Modern clinical testing strategies in cobalamin and folate deficiency. Semin Hematol 36:35–46