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Pathway Description
Dimethylglycine Dehydrogenase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-10-24
Dimethylglycine dehydrogenase deficiency, also called DMGDH deficiency and dimethylglycinuria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glycine metabolism caused by a defective DMGDH gene. DMGDH codes for the mitochondrial protein dimethylglycine dehydrogenase which catalyzes the conversion of dimethylglycine into sarcosine. This disorder is characterized by a large accumulation of N,N-dimethylglycine (DMG) and creatinine kinase in serum, and DMG in the urine. Symptoms of the disorder include an unusual fish-like odour and muscle weakness. It is estimated that DMGDH deficiency affects 1 in 1 000 000 individuals.
References
Dimethylglycine Dehydrogenase Deficiency References
Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J, Wevers RA: Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. Clin Chem. 1999 Apr;45(4):459-64.
Pubmed: 10102904
Binzak BA, Vockley JG, Jenkins RB, Vockley J: Structure and analysis of the human dimethylglycine dehydrogenase gene. Mol Genet Metab. 2000 Mar;69(3):181-7. doi: 10.1006/mgme.2000.2980.
Pubmed: 10767172
Glycine and Serine Metabolism References
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Pubmed: 3418353
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Pubmed: 1886775
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Pubmed: 14702039
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Pubmed: 10591208
Binzak BA, Vockley JG, Jenkins RB, Vockley J: Structure and analysis of the human dimethylglycine dehydrogenase gene. Mol Genet Metab. 2000 Mar;69(3):181-7. doi: 10.1006/mgme.2000.2980.
Pubmed: 10767172
Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J: Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet. 2001 Apr;68(4):839-47. doi: 10.1086/319520. Epub 2001 Feb 28.
Pubmed: 11231903
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Pubmed: 10444331
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Pubmed: 15164053
Kure S, Narisawa K, Tada K: Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. Biochem Biophys Res Commun. 1991 Feb 14;174(3):1176-82. doi: 10.1016/0006-291x(91)91545-n.
Pubmed: 1996985
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Pubmed: 1993704
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Pubmed: 7916605
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Pubmed: 8188235
Yang X, Wang Z, Li X, Liu B, Liu M, Liu L, Chen S, Ren M, Wang Y, Yu M, Wang B, Zou J, Zhu WG, Yin Y, Gu W, Luo J: SHMT2 Desuccinylation by SIRT5 Drives Cancer Cell Proliferation. Cancer Res. 2018 Jan 15;78(2):372-386. doi: 10.1158/0008-5472.CAN-17-1912. Epub 2017 Nov 27.
Pubmed: 29180469
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Pubmed: 29452640
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Pubmed: 8406489
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Pubmed: 3693355
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Pubmed: 3278312
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