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Pathway Description
Segawa Syndrome
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Segawa syndrome is a condition in which the affected individual has a clumsy or unusual gait, and experiences involuntary muscle contractions and uncontrolled movements (dystonia). Some cases are mild, while others can be severe. The beginning signs of this condition are dystonia in the legs, and clubfeet. The cause of this condition is a mutation in the GCH1 gene. Tetrahydrobiopterin is an important compound in the production of neurotransmitters, specifically dopamine and serotonin, and the processing of quite a few amino acids, The mutation on GCH1 causes GTP cyclohydrase 1 production to be reduced or absent which causes the first three steps of tetrahydrobiopterin biosynthesis to be compromised. Dopamine is imperative in maintaining smooth muscle movements, which is why patients with Segawa syndrome experience movement problems and an unusual gait.
References
Segawa Syndrome References
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Pterine Biosynthesis References
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Ota A, Ichinose H, Nagatsu T: Mouse sepiapterin reductase: an enzyme involved in the final step of tetrahydrobiopterin biosynthesis. Primary structure deduced from the cDNA sequence. Biochim Biophys Acta. 1995 Feb 21;1260(3):320-2. doi: 10.1016/0167-4781(94)00225-r.
Pubmed: 7873607
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Pubmed: 10209270
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Pubmed: 8304109
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 SMP0000490
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