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Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase

✍ Scribed by S. K. Wadman; M. Duran; F. A. Beemer; B. P. Cats; J. L. Johnson; K. V. Rajagopalan; J. M. Saudubray; H. Ogier; C. Charpentier; R. Berger; G. P. A. Smit; J. Wilson; S. Krywawych

Publisher
Springer
Year
1983
Tongue
English
Weight
856 KB
Volume
6
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES

Report on a new patient with combined de
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency
✍ W. Endres; Y. S. Shin; R. GΓΌnther; H. Ibel; M. Duran; S. K. Wadman πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 796 KB

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