Abstract
A universal molybdenum-containing cofactor is necessary for the activity of all eukaryotic molybdoenzymes. In humans four such enzymes are known: Sulfite oxidase, xanthine oxidoreductase, aldehyde oxidase and a mitochondrial amidoxime reducing component. Of these, sulfite oxidase is the most important and clinically relevant one. Mutations in the genes MOCS1, MOCS2 or GPHN - all encoding cofactor biosynthesis proteins - lead to molybdenum cofactor deficiency type A, B or C, respectively. All three types plus mutations in the SUOX gene responsible for isolated sulfite oxidase deficiency lead to progressive neurological disease which untreated in most cases leads to death in early childhood. Currently, only for type A of the cofactor deficiency an experimental treatment is available.
Highlights
Isolated sulfite oxidase deficiency (MIM#606887) is an autosomal recessive inherited disease caused by mutations in the sulfite oxidase (SUOX) gene [1]
More often a so called combined form of sulfite oxidase deficiency is found, which is caused by the absence of a molybdenum containing cofactor required for the activity of sulfite oxidase deficiency and that of xanthine oxidoreductase, aldehyde oxidase and a mitochondrial amidoxime reducing component [2]
Alternative splicing-involving exon 9 of a total of 10 exons-omits this motif and the corresponding stop codon. This leads to a fusion protein MOCS1AB, which consists of a nearly complete A domain and an additional B domain encoded by the second open reading frames (ORF)
Summary
Isolated sulfite oxidase deficiency (MIM#606887) is an autosomal recessive inherited disease caused by mutations in the sulfite oxidase (SUOX) gene [1]. More often a so called combined form of sulfite oxidase deficiency is found, which is caused by the absence of a molybdenum containing cofactor required for the activity of sulfite oxidase deficiency and that of xanthine oxidoreductase, aldehyde oxidase and a mitochondrial amidoxime reducing component [2]. This combined form is inherited autosomal recessively and caused by mutations in the genes MOCS1 (MIM#603707), MOCS2 (MIM#603708) or GPHN (MIM#603930). In the combined form, an increased level of xanthine and a reduced level of uric acid are found
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