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Volumn 26, Issue 5, 2003, Pages 443-458

Maternal methionine adenosyltransferase I/III deficiency: Reproductive outcomes in a woman with four pregnancies

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; CYSTATHIONINE; CYSTATHIONINE GAMMA LYASE; METHIONINE; METHIONINE ADENOSYLTRANSFERASE; PHOSPHATIDYLCHOLINE;

EID: 0042329126     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025121326959     Document Type: Article
Times cited : (15)

References (43)
  • 1
    • 0027515431 scopus 로고
    • Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism
    • Allen RH, Stabler SP, Lindenbaum J (1993) Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42: 1448-1460.
    • (1993) Metabolism , vol.42 , pp. 1448-1460
    • Allen, R.H.1    Stabler, S.P.2    Lindenbaum, J.3
  • 4
    • 0032533305 scopus 로고    scopus 로고
    • Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles
    • Capdevila A, Wagner C (1998) Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles. Anal Biochem 264: 180-184.
    • (1998) Anal. Biochem. , vol.264 , pp. 180-184
    • Capdevila, A.1    Wagner, C.2
  • 5
    • 0000343368 scopus 로고
    • Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland
    • Carson NAJ, Neill DW (1962) Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child 37: 505-513.
    • (1962) Arch. Dis. Child , vol.37 , pp. 505-513
    • Carson, N.A.J.1    Neill, D.W.2
  • 7
    • 0031020197 scopus 로고    scopus 로고
    • Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene
    • Chamberlin ME, Ubagia T, Mudd SH, Levy HL, Chou JY (1997) Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am J Hum Genet 60: 540-546.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 540-546
    • Chamberlin, M.E.1    Ubagia, T.2    Mudd, S.H.3    Levy, H.L.4    Chou, J.Y.5
  • 8
    • 0033925776 scopus 로고    scopus 로고
    • Methionine adenosyltransferase I/III deficiency: Novel mutations and clinical variations
    • Chamberlin ME, Ugagai T, Mudd SH, et al (2000) Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet 66: 347-355.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 347-355
    • Chamberlin, M.E.1    Ugagai, T.2    Mudd, S.H.3
  • 9
    • 0002705479 scopus 로고    scopus 로고
    • S-Adenosylmethionine-dependent methyltransferases
    • Carmel R, Jacobsen DW, eds. Boston: Cambridge University Press
    • Clark S, Banefield K (2001) S-Adenosylmethionine-dependent methyltransferases. In Carmel R, Jacobsen DW, eds. Homocysteine in Health and Disease. Boston: Cambridge University Press, 63-78.
    • (2001) Homocysteine in Health and Disease , pp. 63-78
    • Clark, S.1    Banefield, K.2
  • 10
    • 33947482089 scopus 로고
    • Dithiothreitol, a new protective reagent for SH groups
    • Cleland WW (1964) Dithiothreitol, a new protective reagent for SH groups. Biochemistry 3: 480-482.
    • (1964) Biochemistry , vol.3 , pp. 480-482
    • Cleland, W.W.1
  • 13
    • 0016199102 scopus 로고
    • Methionine adenosyltransferase deficiency: A new enzymatic defect associated with hypermethioninemia
    • Gaull GE, Tallan HH (1974) Methionine adenosyltransferase deficiency: a new enzymatic defect associated with hypermethioninemia. Science 186: 59-60.
    • (1974) Science , vol.186 , pp. 59-60
    • Gaull, G.E.1    Tallan, H.H.2
  • 14
    • 0015357403 scopus 로고
    • Development of mammalian sulfur metabolism: Absence of cystathionase in human fetal tissues
    • Gaull GE, Sturman JA, Räihä NCR (1972) Development of mammalian sulfur metabolism: absence of cystathionase in human fetal tissues. Pediatr Res 6: 538-547.
    • (1972) Pediatr. Res. , vol.6 , pp. 538-547
    • Gaull, G.E.1    Sturman, J.A.2    Räihä, N.C.R.3
  • 15
    • 0019489645 scopus 로고
    • Hypermethioninemia associated with methionine adenosyltransferase deficiency: Clinical morphologic, and biochemical observations on four patients
    • Gaull GE, Tallan HH, Lonsdale D, Przyrembel H, Schaffner F, von Bassewitz DB (1981) Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical morphologic, and biochemical observations on four patients. J Pediatr 98: 734-741.
    • (1981) J. Pediatr. , vol.98 , pp. 734-741
    • Gaull, G.E.1    Tallan, H.H.2    Lonsdale, D.3    Przyrembel, H.4    Schaffner, F.5    von Bassewitz, D.B.6
  • 16
    • 0002446625 scopus 로고
    • Screening for 'inborn errors of metabolism' in the newborn infant - A multiple test program
    • Guthrie R (1968) Screening for 'inborn errors of metabolism' in the newborn infant-a multiple test program. Birth Defects 4: 92-98.
    • (1968) Birth Defects , vol.4 , pp. 92-98
    • Guthrie, R.1
  • 17
    • 85011102618 scopus 로고    scopus 로고
    • Report of the Standing Committee on the Scientific Evaluation of Dietary Reference Intakes and its Panel on Folate, other B Vitamins, and Choline and Subcommittee on Upper Reference Levels of Nutrients, Food and Nutrition Board, Institute of Medicine
    • Institute of Medicine Washington, DC: National Academy Press
    • 12, Pantothenic acid, Biotin, and Choline. Washington, DC: National Academy Press.
    • (1998) 12, Pantothenic Acid, Biotin, and Choline
  • 18
    • 0003926177 scopus 로고
    • Biochemistry of the SH Group
    • London: Academic Press
    • Jocelyn PC (1972) Biochemistry of the SH Group. London: Academic Press, 121-126.
    • (1972) , pp. 121-126
    • Jocelyn, P.C.1
  • 19
    • 0036975282 scopus 로고    scopus 로고
    • Methionine adenosyltransferase I/III deficiency. Two Korean compound heterozygous sibs with a novel mutation
    • Kim SZ, Santamaria E, Jeong TE, et al (2003) Methionine adenosyltransferase I/III deficiency. Two Korean compound heterozygous sibs with a novel mutation. J Inherit Metab Dis 25: 661-671.
    • (2003) J. Inherit. Metab. Dis. , vol.25 , pp. 661-671
    • Kim, S.Z.1    Santamaria, E.2    Jeong, T.E.3
  • 20
    • 0037106401 scopus 로고    scopus 로고
    • Quantitation of choline and its metabolites in tissue and foods by liquid chromatography/electrospray ionization-isotope dilution mass spectrometry
    • Koc H, Mar M-H, Ranasinghe A, Swenberg JA, Zeisel S (2002) Quantitation of choline and its metabolites in tissue and foods by liquid chromatography/ electrospray ionization-isotope dilution mass spectrometry. Anal Chem 74: 4743-4740.
    • (2002) Anal. Chem. , vol.74 , pp. 4740-4743
    • Koc, H.1    Mar, M.-H.2    Ranasinghe, A.3    Swenberg, J.A.4    Zeisel, S.5
  • 21
    • 0031066188 scopus 로고    scopus 로고
    • Consensus nomenclature for methionine adenosyltransferase genes and gene products
    • Kotb M, Mudd SH, Mato JM, et al (1997) Consensus nomenclature for methionine adenosyltransferase genes and gene products. Trends Genet 13: 51-52.
    • (1997) Trends Genet. , vol.13 , pp. 51-52
    • Kotb, M.1    Mudd, S.H.2    Mato, J.M.3
  • 22
    • 0021027583 scopus 로고
    • Amino acid composition of preterm and term breast milk during early lactation
    • Lemons JA, Reyman D, Moye L (1983) Amino acid composition of preterm and term breast milk during early lactation. Early Hum Dev 8: 323-329.
    • (1983) Early Hum. Dev. , vol.8 , pp. 323-329
    • Lemons, J.A.1    Reyman, D.2    Moye, L.3
  • 23
    • 0041530905 scopus 로고
    • Reproductive effects of inborn errors of metabolism
    • Farriaux J, Dhondt J, eds. Amsterdam: Excerpta Medica
    • Levy HL (1994) Reproductive effects of inborn errors of metabolism. In Farriaux J, Dhondt J, eds. New Horizons in Neonatal Screening. Amsterdam: Excerpta Medica, 61-68.
    • (1994) New Horizons in Neonatal Screening , pp. 61-68
    • Levy, H.L.1
  • 24
    • 0029977276 scopus 로고    scopus 로고
    • Maternal phenylketonuria: A metabolic tetratogen
    • Levy HL, Ghavami M (1996) Maternal phenylketonuria: a metabolic tetratogen. Teratology 53: 176-184.
    • (1996) Teratology , vol.53 , pp. 176-184
    • Levy, H.L.1    Ghavami, M.2
  • 26
    • 0034535031 scopus 로고    scopus 로고
    • Isolated hypermethioninemia: Measurements of S-adenosylmethionine and choline
    • Mudd SH, Jenden DJ, Capdevila A, Roch M, Levy HL, Wagner C (2000) Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline. Metabolism 49: 1542-1547.
    • (2000) Metabolism , vol.49 , pp. 1542-1547
    • Mudd, S.H.1    Jenden, D.J.2    Capdevila, A.3    Roch, M.4    Levy, H.L.5    Wagner, C.6
  • 27
    • 0000167774 scopus 로고    scopus 로고
    • Disorders of transsulfuration
    • Scriver CR, Beaudet AL, Valle D, Sly WS, eds.; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Mudd SH, Levy HL, Kraus JP (2001) Disorders of transsulfuration. In Scriver CR, Beaudet AL, Valle D, Sly WS, eds.; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2007-2056.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2007-2056
    • Mudd, S.H.1    Levy, H.L.2    Kraus, J.P.3
  • 28
    • 0030870869 scopus 로고    scopus 로고
    • Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance
    • Nagao M, Oyanagi K (1997) Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance. Acta Paediatr Jpn 39: 601-606.
    • (1997) Acta Paediatr. Jpn. , vol.39 , pp. 601-606
    • Nagao, M.1    Oyanagi, K.2
  • 30
    • 0024338009 scopus 로고
    • Measurement of choline and choline metabolic concentrations using high-pressure liquid chromatography and gas chromatography-mass spectrometry
    • Pomfret EA, daCosta K, Schurman LL, Zeisel SH (1989) Measurement of choline and choline metabolic concentrations using high-pressure liquid chromatography and gas chromatography-mass spectrometry. Anal Biochem 180: 85-90.
    • (1989) Anal. Biochem. , vol.180 , pp. 85-90
    • Pomfret, E.A.1    daCosta, K.2    Schurman, L.L.3    Zeisel, S.H.4
  • 31
    • 0018426690 scopus 로고
    • How does one assess the risk of abnormalities from human in vitro fertilization?
    • Schlesselman JJ (1979) How does one assess the risk of abnormalities from human in vitro fertilization? Am J Obstet Gynecol 135: 135-148.
    • (1979) Am. J. Obstet. Gynecol. , vol.135 , pp. 135-148
    • Schlesselman, J.J.1
  • 32
    • 0023256234 scopus 로고
    • Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectometry
    • Stabler SP, Marcell PD, Podell ER, Allen RH (1987) Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectometry. Anal Biochem 162: 185-196.
    • (1987) Anal. Biochem. , vol.162 , pp. 185-196
    • Stabler, S.P.1    Marcell, P.D.2    Podell, E.R.3    Allen, R.H.4
  • 33
    • 0027160548 scopus 로고
    • Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency
    • Stabler SP, Lindenbaum J, Savage DG, Allen RH (1993) Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood 81: 3404-3413.
    • (1993) Blood , vol.81 , pp. 3404-3413
    • Stabler, S.P.1    Lindenbaum, J.2    Savage, D.G.3    Allen, R.H.4
  • 34
    • 0036344537 scopus 로고    scopus 로고
    • Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency
    • Stabler SP, Steegborn C, Wahl MC, et al (2002) Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism 51: 981-988.
    • (2002) Metabolism , vol.51 , pp. 981-988
    • Stabler, S.P.1    Steegborn, C.2    Wahl, M.C.3
  • 35
    • 0026334413 scopus 로고
    • Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway
    • Surtees R, Leonard J, Austin S (1991) Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. Lancet 338: 1550-1554.
    • (1991) Lancet , vol.338 , pp. 1550-1554
    • Surtees, R.1    Leonard, J.2    Austin, S.3
  • 36
    • 0022557550 scopus 로고
    • Determination of volatile sulphur compounds in air at the parts per trillion level by Tenax trapping and gas chromatography
    • Tangerman A (1986) Determination of volatile sulphur compounds in air at the parts per trillion level by Tenax trapping and gas chromatography. J Chromatogr 366: 205-216.
    • (1986) J. Chromatogr. , vol.366 , pp. 205-216
    • Tangerman, A.1
  • 37
    • 0033880861 scopus 로고    scopus 로고
    • Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency
    • Tangerman A, Wilcken B, Levy HL, Boers GHJ, Mudd SH (2000) Methionine transamination in patients with homocystinuria due to cystathionine β-synthase deficiency. Metabolism 49: 1071-1077.
    • (2000) Metabolism , vol.49 , pp. 1071-1077
    • Tangerman, A.1    Wilcken, B.2    Levy, H.L.3    Boers, G.H.J.4    Mudd, S.H.5
  • 38
    • 0028810994 scopus 로고
    • Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency
    • Ubagai T, Lei K-J, Huang S, Mudd SH, Levy HL, Chou JY (1995) Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. J Clin Invest 96: 1943-1947.
    • (1995) J. Clin. Invest. , vol.96 , pp. 1943-1947
    • Ubagai, T.1    Lei, K.-J.2    Huang, S.3    Mudd, S.H.4    Levy, H.L.5    Chou, J.Y.6
  • 39
    • 0032876372 scopus 로고    scopus 로고
    • Maternal γ-cystathionase deficiency: Absence of both teratogenic effects and pregnancy complications
    • Vargas JE, Mudd SH, Waisbren SE, Levy HL (1999) Maternal γ-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications. Am J Obstet Gynecol 181: 753-755.
    • (1999) Am. J. Obstet. Gynecol. , vol.181 , pp. 753-755
    • Vargas, J.E.1    Mudd, S.H.2    Waisbren, S.E.3    Levy, H.L.4
  • 40
    • 0032538421 scopus 로고    scopus 로고
    • Biochemical and evolutionary significance of phospholipid methylation
    • Walkey CJ, Yu L, Agellon LB, Vance DE (1998) Biochemical and evolutionary significance of phospholipid methylation. J Biol Chem 273: 27043-27046.
    • (1998) J. Biol. Chem. , vol.273 , pp. 27043-27046
    • Walkey, C.J.1    Yu, L.2    Agellon, L.B.3    Vance, D.E.4
  • 41
    • 0025151131 scopus 로고
    • Choline deficiency
    • Zeisel SH (1990) Choline deficiency. J Nutr Biochem 1: 332-349.
    • (1990) J. Nutr. Biochem. , vol.1 , pp. 332-349
    • Zeisel, S.H.1
  • 42
    • 0030626784 scopus 로고    scopus 로고
    • Choline: Essential for brain development and function
    • Zeisel SH (1997) Choline: essential for brain development and function. Adv Pediatr 44: 263-295.
    • (1997) Adv. Pediatr. , vol.44 , pp. 263-295
    • Zeisel, S.H.1


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