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Pathway Description
Glycine N-Methyltransferase Deficiency
Homo sapiens
Disease Pathway
Glycine N-methyltransferase deficiency, also called GNMT deficiency, is an autosomal recessive disorder of methionine metabolism caused by a defective glycine N-methyltransferase (GNMT). GNMT catalyzes the conversion of glycine into N-methylglycine (sarcosine) using S-adenosylmethionine (SAM or AdoMet). This disorder is characterized by a large accumulation of methionine in the plasma and transaminases in the serum. Symptoms of the disorder include hepatomegaly.
References
Glycine N-Methyltransferase Deficiency References
[Uniprot: Q14749](http://www.uniprot.org/uniprot/Q14749)
[OMIM: Entry 606664](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606664)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.48 Heilbronn: SPS Verlagsgesellschaft
Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C: Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. 2002 Jan;110(1):68-74. doi: 10.1007/s00439-001-0648-4. Epub 2001 Dec 7.
Pubmed: 11810299
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 persistent isolated hypermethioninaemia. J Inherit Metab Dis. 2001 Aug;24(4):448-64.
Pubmed: 11596649
Luka Z, Capdevila A, Mato JM, Wagner C: A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme. Transgenic Res. 2006 Jun;15(3):393-7. doi: 10.1007/s11248-006-0008-1.
Pubmed: 16779654
Methionine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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