Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system.
Open Access
- 1 September 1976
- journal article
- research article
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 58 (3), 551-556
- https://doi.org/10.1172/jci108500
Abstract
Frozen liver tissue from an individual identified several years ago as sulfite oxidase deficient has been reexamined in light of new knowledge which has been obtained regarding the enzyme. It has been established that hepatic molybdenum levels and xanthine oxidase activity were within normal values and comparable to those observed in control samples preserved from the original study along with the deficient tissue sample. The ability of the patient's liver to synthesize the specific molybdenum cofactor required for activation of de-molybdo sulfite oxidase also appears to have been unimpaired. Using an antibody preparation directed against rat liver sulfite oxidase which also inhibits and precipitates the human enzyme, it has been determined that cross-reacting material with determinants recognized by inhibiting antibodies is absent in the liver sample from the deficient patient. Immunodiffusion experiments gave strong precipitin bands against the control liver extracts, but showed no detectable precipitin reaction between the deficient liver extract and the antibody preparation. The relationship of these findings to a second patient recently identified as sulfite oxidase deficient and to an animal model of the disease are discussed.Keywords
This publication has 16 references indexed in Scilit:
- Purification and properties of sulfite oxidase from human liver.JCI Insight, 1976
- The properties of sulfite oxidation in perfused rat liver; interaction of sulfite oxidase with the mitochondrial respiratory chainArchives of Biochemistry and Biophysics, 1975
- Molecular basis of the biological function of molybdenum. Developmental patterns of sulfite oxidase and xanthine oxidase in the ratArchives of Biochemistry and Biophysics, 1974
- Molecular basis of the biological function of molybdenum. Molybdenum-free xanthine oxidase from livers of tungsten-treated rats.1974
- Molecular basis of the biological function of molybdenum. Effect of tungsten on xanthine oxidase and sulfite oxidase in the rat.1974
- Molecular Basis of the Biological Function of Molybdenum. The Relationship between Sulfite Oxidase and the Acute Toxicity of Bisulfite and SO 2Proceedings of the National Academy of Sciences, 1973
- In Vitro Formation of Assimilatory Reduced Nicotinamide Adenine Dinucleotide Phosphate: Nitrate Reductase from a Neurospora Mutant and a Component of Molybdenum-EnzymesProceedings of the National Academy of Sciences, 1971
- The regulation of rat liver xanthine oxidase. Conversion in vitro of the enzyme activity from dehydrogenase (type D) to oxidase (type O).1969
- Sulfite Oxidase Deficiency in Man: Demonstration of the Enzymatic DefectScience, 1967
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951