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Pathway Description
Dopamine beta-Hydroxylase Deficiency
Homo sapiens
Disease Pathway
Dopamine beta-hydroxylase deficiency (or norepinephrine deficiency) is caused by mutation in the gene encoding dopamine beta-hydroxylase. Clinical features include orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history of delayed eye opening. Noradrenaline and adrenaline are generally not detectable in plasma, urine, and cerebrospinal fluid, but dopamine is increased 7- to 12-fold in plasma, 4-fold in urine, and 20-fold in CSF. Treatment with dihydroxyphenylserine has been shown to reduce symptoms and signs of postural hypotension and increase plasma levels of noradrenaline.
References
Dopamine beta-Hydroxylase Deficiency References
[Metagen: DOPAMINE BETA-HYDROXYLASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=445)
[OMIM: 223360](http://omim.org/entry/223360})
Biaggioni I, Goldstein DS, Atkinson T, Robertson D: Dopamine-beta-hydroxylase deficiency in humans. Neurology. 1990 Feb;40(2):370-3.
Pubmed: 2300263
Senard JM, Rouet P: Dopamine beta-hydroxylase deficiency. Orphanet J Rare Dis. 2006 Mar 30;1:7. doi: 10.1186/1750-1172-1-7.
Pubmed: 16722595
Thöny B, Gibson KM: Murine models of inherited monoaminergic and GABAergic neurotransmitter disorders. Future Neurology. 2006 Sep 01;1(5):665-676. doi: 10.2217/14796708.1.5.665.
Tyrosine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.)Â (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Yang YS, Wang CC, Chen BH, Hou YH, Hung KS, Mao YC: Tyrosine sulfation as a protein post-translational modification. Molecules. 2015 Jan 28;20(2):2138-64. doi: 10.3390/molecules20022138.
Pubmed: 25635379
Lee RW, Huttner WB: Tyrosine-O-sulfated proteins of PC12 pheochromocytoma cells and their sulfation by a tyrosylprotein sulfotransferase. J Biol Chem. 1983 Sep 25;258(18):11326-34.
Pubmed: 6577005
Westmuckett AD, Thacker KM, Moore KL: Tyrosine sulfation of native mouse Psgl-1 is required for optimal leukocyte rolling on P-selectin in vivo. PLoS One. 2011;6(5):e20406. doi: 10.1371/journal.pone.0020406. Epub 2011 May 25.
Pubmed: 21633705
Ruzzene M, Donella-Deana A, Marin O, Perich JW, Ruzza P, Borin G, Calderan A, Pinna LA: Specificity of T-cell protein tyrosine phosphatase toward phosphorylated synthetic peptides. Eur J Biochem. 1993 Jan 15;211(1-2):289-95. doi: 10.1111/j.1432-1033.1993.tb19897.x.
Pubmed: 7678807
Honova E, Miller SA, Ehrenkranz RA, Woo A: Tyrosine transaminase: development of daily rhythm in liver of neonatal rat. Science. 1968 Nov 29;162(3857):999-1001. doi: 10.1126/science.162.3857.999.
Pubmed: 4387001
Bartesaghi S, Valez V, Trujillo M, Peluffo G, Romero N, Zhang H, Kalyanaraman B, Radi R: Mechanistic studies of peroxynitrite-mediated tyrosine nitration in membranes using the hydrophobic probe N-t-BOC-L-tyrosine tert-butyl ester. Biochemistry. 2006 Jun 6;45(22):6813-25. doi: 10.1021/bi060363x.
Pubmed: 16734418
Goldstein S, Czapski G, Lind J, Merenyi G: Tyrosine nitration by simultaneous generation of (.)NO and O-(2) under physiological conditions. How the radicals do the job. J Biol Chem. 2000 Feb 4;275(5):3031-6. doi: 10.1074/jbc.275.5.3031.
Pubmed: 10652282
Radi R: Protein tyrosine nitration: biochemical mechanisms and structural basis of functional effects. Acc Chem Res. 2013 Feb 19;46(2):550-9. doi: 10.1021/ar300234c. Epub 2012 Nov 16.
Pubmed: 23157446
Sherry DM, Kanan Y, Hamilton R, Hoffhines A, Arbogast KL, Fliesler SJ, Naash MI, Moore KL, Al-Ubaidi MR: Differential developmental deficits in retinal function in the absence of either protein tyrosine sulfotransferase-1 or -2. PLoS One. 2012;7(6):e39702. doi: 10.1371/journal.pone.0039702. Epub 2012 Jun 22.
Pubmed: 22745813
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