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Pathway Description
Sepiapterin Reductase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-11-01
Sepiapterin reductase deficiency results from a metabolic disorder; namely, the underproduction of Sepiapterin. The cause of this underproduction is an autosomal recessive genetic mutation in the SPR gene. This gene is responsible for Sepiapterin production, and naturally, when the gene malfunctions the production of this metabolite is altered leading to a range of effects on the body. In this case, some symptoms of Sepiapterin Deficiency are: motor and speech delay, axial hypotonia, dystonia, weakenss microcephaly, dysarthria, autonomic dysfunction, oculogyric crises, drowsiness, among others.
References
Sepiapterin Reductase Deficiency References
[Metagen: SEPIAPTERIN REDUCTASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=471)
[OMIM: 182125](http://omim.org/entry/182125})
[NIH](http://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency)
Friedman J: Sepiapterin Reductase Deficiency
Pubmed: 26131547
Pterine Biosynthesis References
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Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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Pubmed: 14702039
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Pubmed: 16572171
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Pubmed: 15489334
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Pubmed: 1282802
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Pubmed: 8216273
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Pubmed: 7698774
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