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Pathway Description
Folate Malabsorption, Hereditary
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Hereditary folate malabsorption, also known as folic acid transport defect, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the folate metabolism pathway. It is caused by a defect in the SLC46A1 gene that encodes the proton-coupled folate transporter protein which is responsible for folate uptake from the intestines. Hereditary folate malabsorption is characterized by low concentrations of folate in the serum and cerebrospinal fluid. Symptoms include feeding difficulties and failure to thrive and anemia, as well as potential neurological issues such as seizures and developmental delays. When infants are born with hereditary folate malabsorption, there are initially few signs, as folate is provided across the placenta, but after birth, folate absorption is inhibited and these symptoms begin to be exhibited. Treatment for hereditary folate malabsorption includes intramuscular or oral doses of reduced folates to bring cerebrospinal fluid folate levels to a normal range, as well as blood transfusions if severe anemia is present. It is estimated that hereditary folate malabsorption affects less than 1 in 1,0000,000 people, with only approximately 30 reported cases.
References
Folate Malabsorption, Hereditary References
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Pubmed: 11807405
Kronn D, Goldman ID: Hereditary Folate Malabsorption
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Pubmed: 21346251
Folate Metabolism References
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Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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Pubmed: 6282858
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McIvor RS, Simonsen CC: Isolation and characterization of a variant dihydrofolate reductase cDNA from methotrexate-resistant murine L5178Y cells. Nucleic Acids Res. 1990 Dec 11;18(23):7025-32. doi: 10.1093/nar/18.23.7025.
Pubmed: 2263462
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Pubmed: 16141072
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. doi: 10.1101/gr.2596504.
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Pubmed: 17242355
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Pubmed: 21183079
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP: Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26.
Pubmed: 19468303
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Pubmed: 9680386
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000724
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