PMID: 3215199Dec 1, 1988Paper

Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency

European Journal of Pediatrics
W EndresS K Wadman

Abstract

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 combined with a low serum and urinary uric acid was consistent with xanthine dehydrogenase deficiency. Both deficiencies could be established at the enzyme level. The primary defect giving rise to the combined abnormalities is the absence of a molybdenum cofactor, a molybdenum-containing pterin being an essential component of both enzymes. The patient developed a severe neurological syndrome, brain atrophy and lens dislocation and died at the age of 22 months. Attempts at treatment, such as oral administration of ammonium molybdate, sodium sulphate, D-penicillamine, 2-mercaptoethane sulphonic acid, pyridoxine and thiamine did not influence the clinical course.

References

Aug 1, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·W Endres, H Seibold
Sep 1, 1975·Life Sciences·A BarbeauR F Butterworth
Jan 1, 1988·Journal of Inherited Metabolic Disease·D T KeoughB T Emmerson
Jan 1, 1985·Virchows Archiv. A, Pathological Anatomy and Histopathology·P G BarthS K Wadman
Jun 1, 1972·Food and Cosmetics Toxicology·H P TilA P De Groot
Jun 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·J L JohnsonS K Wadman

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Citations

Nov 1, 1993·Annals of Neurology·R G BolesP Rinaldo
May 1, 1990·European Journal of Pediatrics·P Kamoun, P Tardy
Jun 1, 1997·Seizure : the Journal of the British Epilepsy Association·J Gibbs, R E Appleton
Apr 1, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rasheda AminAsha Moudgil
Oct 30, 2010·Human Mutation·Jochen Reiss, Rita Hahnewald
Sep 24, 2005·Molecular Genetics and Metabolism·William L Nyhan
Mar 30, 2005·Journal of Child Neurology·Ozlem TeksamTurgay Coskun
May 20, 2003·Human Mutation·Jochen Reiss, Jean L Johnson
Dec 29, 1995·The Journal of Biological Chemistry·M L CalziE Garattini

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