Summary
Sulphite oxidase deficiency occurs in man in two forms, as the isolated deficiency and as a syndrome of combined molybdoenzyme deficiency. This latter pleiotropic condition has as its underlying cause a defect in the synthesis of the molybdenum cofactor required for the activity of all molybdoenzymes in humans. Difficulties in diagnosis of sulphite oxidase deficiency are often encountered. A new method for detection of a key diagnostic metabolite,S-sulphocysteine, is outlined. The procedure is based on precolumn derivatization of urinary amino acids with dimethylaminoazobenzene sulphonyl chloride (Dabsyl-Cl) and resolution of the modifiedS-sulphocysteine by reversed-phase HPLC. A number of affected patients and control individuals with similar clinical symptoms have been studied, and a clear demarcation between the two groups has been noted.
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Brown GK, Scholem RD, Croll HB, Wraith JE, McGill JJ (1989) Sulfite oxidase deficiency: clinical, neurological, and biochemical features in two new patients.Neurology 39: 252–257.
Duran M, Beemer FA, van der Heiden C et al (1978) Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?J Inher Metab Dis 1: 175–178.
Garrett RM, Rajagopalan KV (1994) Molecular cloning of rat liver sulfite oxidase. Expression of a eukaryotic Mo-pterin-containing enzyme inEscherichia coli.J Biol Chem 269: 272–276.
Johnson JL, Wadman SK (1989) Molybdenum cofactor deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 1463–1475.
Johnson JL, Waud WR, Rajagopalan KV, Duran M, Beemer FA, Wadman SK (1980) Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.Proc Natl Acad Sci USA 77: 3715–3719.
Lin JK, Chang JY (1975) Chromophoric labelling of amino acids with 4-dimethylaminoazobenzene-4′-sulfonyl chloride.Anal Chem 47: 1634–1638.
Mann G, Kirk JM (1994) Antibiotic interference in urinary thiosulphate measurements.J Inher Metab Dis 17: 120–121.
Parvy PR, Bardet JI, Rabier DM, Kamoun PP (1988) Age-related reference values for free amino acids in first morning urine specimens.Clin Chem 34: 2092–2095.
Rajagopalan KV, Johnson JL (1992) The pterin molybdenum cofactors.J Biol Chem 267: 10199–10202.
Reynolds AP, Harkness RA (1991) Urinary thiosulphate/creatinine concentration ratio in hospitalized children.J Inher Metab Dis 14: 938–939.
Segel IH, Johnson MJ (1963) Synthesis and characterization of sodium cysteine-S-sulfate-monohydrate.Anal Biochem 5: 330–337.
Shih VE (1983) Ampicillin interference with test for sulfite oxidase deficiency.Clin Chem 29: 211–212.
Shih VE, Carney MM, Mandell R (1979) A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method.Clin Chim Acta 95: 143–145.
Stevenson DD, Simon RA (1981) Sulfites and asthma.J Allergy Clin Immunol 68: 26–32.
Stocchi V, Piccoli G, Magnani M, Palma F, Biagiarelli B, Cucchiarini L (1989) Reversed-phase high-performance liquid chromatography separation of dimethylaminoazobenzene sulfonyl-and dimethylaminoazobenzene thiohydantoin-amino acid derivatives for amino acid analysis and microsequencing studies at the picomole level.Anal Biochem 178: 107–117.
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Johnson, J.L., Rajagopalan, K.V. An HPLC assay for detection of elevated urinaryS-sulphocysteine, a metabolic marker of sulphite oxidase deficiency. J Inherit Metab Dis 18, 40–47 (1995). https://doi.org/10.1007/BF00711371
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DOI: https://doi.org/10.1007/BF00711371