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Pathway Description
Sulfite Oxidase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-10-07
Sulfite oxidase deficiency (SOD) is a disorder, an autosomal recessive disease. In classic SOD, it is usually identified a few days after the birth of an affected individual, and is recognizable through characteristic dysmorphic features, seizures, and other signs of progressive encephalopathy. Patients also have ocular lenses that are dislocated, and usually die within a few months of being born. In late- onset SOD, the disorder is identified only in the later months, usually 6-18 months, of the child’s life by a delay or regression of neurological progress. This disorder is very rare, but the actual prevalence is not known. It can be diagnosed through a sulfite test strip in urine or by a skin fibroblast culture, which will indicate an absence of sulfite oxidase.
References
Sulfite Oxidase Deficiency References
[Metagen: SULFITE OXIDASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=37)
[OMIM: 272300](http://omim.org/entry/272300})
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Pubmed: 23452914
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Pubmed: 3888441
Bindu PS, Nagappa M, Bharath RD, Taly AB: Isolated Sulfite Oxidase Deficiency
Pubmed: 28933809
Sulfate/Sulfite Metabolism References
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Pubmed: 14702039
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Pubmed: 16710414
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Gamage NU, Duggleby RG, Barnett AC, Tresillian M, Latham CF, Liyou NE, McManus ME, Martin JL: Structure of a human carcinogen-converting enzyme, SULT1A1. Structural and kinetic implications of substrate inhibition. J Biol Chem. 2003 Feb 28;278(9):7655-62. doi: 10.1074/jbc.M207246200. Epub 2002 Dec 5.
Pubmed: 12471039
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Pubmed: 20417180
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Pubmed: 8363592
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Pubmed: 12145317
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Pubmed: 12923182
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Pubmed: 28575648
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Pubmed: 15273723
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Pubmed: 11056388
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Pubmed: 10781601
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