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Pathway Description
Tyrosine Hydroxylase Deficiency
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Tyrosine Hydroxylase (TH) Deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of catecholamines pathways. The disorder is caused by defects in the Tyrosine hydroxylase (TH) gene which encodes for the enzyme tyrosine hydroxylase. This enzyme is part of the production of catecholamines such as dopamine, norepinephrine and epinephrine are all essential for normal nervous system function. Dopamine transmits signals to help the brain control physical movement and emotional behavior. Norepinephrine and epinephrine are involved in the autonomic nervous system. Mutations in the TH gene result in reduced activity of the tyrosine hydroxylase enzyme. As a result, the body produces less dopamine, norepinephrine and epinephrine. Symptoms of the disorder include abnormal movements, autonomic dysfunction, and other neurological problems. Treatments can include the administration of levodopa; however patient responses can vary greatly. The frequency of Tyrosine Hydroxylase Deficiency is unknown.
References
Tyrosine Hydroxylase Deficiency References
Furukawa Y, Kish S: Tyrosine Hydroxylase Deficiency
Pubmed: 20301610
Catecholamine Biosynthesis 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.
Ichikawa S, Sasaoka T, Nagatsu T: Primary structure of mouse tyrosine hydroxylase deduced from its cDNA. Biochem Biophys Res Commun. 1991 May 15;176(3):1610-6. doi: 10.1016/0006-291x(91)90472-j.
Pubmed: 1674869
Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP: A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89. doi: 10.1016/j.cell.2010.12.001.
Pubmed: 21183079
Nakano T, Kobayashi K, Saito S, Fujita K, Nagatsu T: Mouse dopamine beta-hydroxylase: primary structure deduced from the cDNA sequence and exon/intron organization of the gene. Biochem Biophys Res Commun. 1992 Nov 30;189(1):590-9. doi: 10.1016/0006-291x(92)91598-k.
Pubmed: 1280432
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Pubmed: 16141072
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP: Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26.
Pubmed: 19468303
Quaife CJ, Hoyle GW, Froelick GJ, Findley SD, Baetge EE, Behringer RR, Hammang JP, Brinster RL, Palmiter RD: Visualization and ablation of phenylethanolamine N-methyltransferase producing cells in transgenic mice. Transgenic Res. 1994 Nov;3(6):388-400.
Pubmed: 8000434
Morita S, Kobayashi K, Hidaka H, Nagatsu T: Organization and complete nucleotide sequence of the gene encoding mouse phenylethanolamine N-methyltransferase. Brain Res Mol Brain Res. 1992 May;13(4):313-9. doi: 10.1016/0169-328x(92)90214-v.
Pubmed: 1320721
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000497
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