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Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

✍ Scribed by Mills, Philippa B.; Footitt, Emma J.; Ceyhan, Serkan; Waters, Paula J.; Jakobs, Cornelis; Clayton, Peter T.; Struys, Eduard A.


Book ID
118796568
Publisher
Springer
Year
2012
Tongue
English
Weight
202 KB
Volume
35
Category
Article
ISSN
0141-8955

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A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine com