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Xu, C. Hypermethioninemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4137 (accessed on 25 September 2026).
Xu C. Hypermethioninemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4137. Accessed September 25, 2026.
Xu, Camila. "Hypermethioninemia" Encyclopedia, https://encyclopedia.pub/entry/4137 (accessed September 25, 2026).
Xu, C. (2020, December 23). Hypermethioninemia. In Encyclopedia. https://encyclopedia.pub/entry/4137
Xu, Camila. "Hypermethioninemia." Encyclopedia. Web. 23 December, 2020.
Hypermethioninemia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hypermethioninemia

Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.

genetic conditions

References

  1. Augoustides-Savvopoulou P, Luka Z, Karyda S, Stabler SP, Allen RH, Patsiaoura K, Wagner C, Mudd SH. Glycine N -methyltransferase deficiency: a new patient witha novel mutation. J Inherit Metab Dis. 2003;26(8):745-59.
  2. Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ,Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH.S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder ofmethionine metabolism. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9.
  3. Barić I, Cuk M, Fumić K, Vugrek O, Allen RH, Glenn B, Maradin M, Pazanin L,Pogribny I, Rados M, Sarnavka V, Schulze A, Stabler S, Wagner C, Zeisel SH, Mudd SH. S-Adenosylhomocysteine hydrolase deficiency: a second patient, the youngerbrother of the index patient, and outcomes during therapy. J Inherit Metab Dis.2005;28(6):885-902.
  4. Biochemistry (fifth edition, 2002): Methionine Metabolism
  5. Brosnan JT, Brosnan ME. The sulfur-containing amino acids: an overview. JNutr. 2006 Jun;136(6 Suppl):1636S-1640S. doi: 10.1093/jn/136.6.1636S. Review.
  6. Buist NR, Glenn B, Vugrek O, Wagner C, Stabler S, Allen RH, Pogribny I,Schulze A, Zeisel SH, Barić I, Mudd SH. S-adenosylhomocysteine hydrolasedeficiency in a 26-year-old man. J Inherit Metab Dis. 2006 Aug;29(4):538-45.
  7. Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, GreeneC, Freehauf C, Chou JY. Methionine adenosyltransferase I/III deficiency: novelmutations and clinical variations. Am J Hum Genet. 2000 Feb;66(2):347-55.
  8. Chou JY. Molecular genetics of hepatic methionine adenosyltransferasedeficiency. Pharmacol Ther. 2000 Jan;85(1):1-9. Review.
  9. Finkelstein JD. Inborn errors of sulfur-containing amino acid metabolism. JNutr. 2006 Jun;136(6 Suppl):1750S-1754S. doi: 10.1093/jn/136.6.1750S. Review.
  10. Harvey Mudd S, Braverman N, Pomper M, Tezcan K, Kronick J, Jayakar P, GargantaC, Ampola MG, Levy HL, McCandless SE, Wiltse H, Stabler SP, Allen RH, Wagner C,Borschel MW. Infantile hypermethioninemia and hyperhomocysteinemia due to highmethionine intake: a diagnostic trap. Mol Genet Metab. 2003 May;79(1):6-16.
  11. Luka Z, Capdevila A, Mato JM, Wagner C. A glycine N-methyltransferase knockoutmouse model for humans with deficiency of this enzyme. Transgenic Res. 2006Jun;15(3):393-7.
  12. Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C. Mutations in humanglycine N-methyltransferase give insights into its role in methionine metabolism.Hum Genet. 2002 Jan;110(1):68-74.
  13. Luka Z, Wagner C. Effect of naturally occurring mutations in human glycineN-methyltransferase on activity and conformation. Biochem Biophys Res Commun.2003 Dec 26;312(4):1067-72.
  14. Mudd SH, Cerone R, Schiaffino MC, Fantasia AR, Minniti G, Caruso U, Lorini R, Watkins D, Matiaszuk N, Rosenblatt DS, Schwahn B, Rozen R, LeGros L, Kotb M,Capdevila A, Luka Z, Finkelstein JD, Tangerman A, Stabler SP, Allen RH, Wagner C.Glycine N-methyltransferase deficiency: a novel inborn error causing persistentisolated hypermethioninaemia. J Inherit Metab Dis. 2001 Aug;24(4):448-64.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 1.7K
Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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