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Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

✍ Scribed by E. Bonioli; A. DiStefano; A. Palmieri; A. Bertola; C. Bellini; U. Caruso; A. R. Fantasia; G. Minniti; C. Dorche


Publisher
Springer
Year
1996
Tongue
English
Weight
177 KB
Volume
19
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