Abstract
We present the clinical and biochemical data of a patient with infantile isolated sulphite oxidase deficiency with late onset of symptoms. A comparison of the biochemical parameters is made with the neonatal type of this disease and with the data of described patients with the combined defect of sulphite oxidase and xanthine oxidase, due to molybdenum cofactor deficiency. False-negative sulphite dip stick test as a pitfall in the diagnosis of sulphite oxidase deficiency is discussed.
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Abbreviations
- ISOD:
-
isolated sulphite oxidase deficiency
References
Brown GK, Scholem RD, Croll HB, Wraith JE, McGill JJ (1989) Sulfite oxidase deficiency: Clinical, neuroradiologic, and biochemical features in two new patients. Neurology 39:252–257
Desjacques P, Mousson B, Vianey-Liaud C, Boulieu R, Bory C, Baltassat P, Divry P, Zabot MT, Cotte J (1985) Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis. J Inherited Metab Dis 8 [Suppl 2]:117–118
Duran M, Beemer FA, Van der Heiden C, Korteland J, De Bree PK, Brink M, Wadman SK (1978) Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J Inherited Metab Dis 1:175–178
Endres W, Shin YS, Günther R, Ibel H, Duran M, Wadman SK (1988) Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Eur J Pediatr 148:246–249
Johnson JL, Wuebbens MM, Mandell R, Shih VE (1988) Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase. Biochem Med Metab Biol 40:86–93
Irreverre F, Mudd SH, Heizer WD, Laster L (1967) Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-l-cysteine, sulfite, and thiosulfate. Biochem Med 1:187–217
Shih VE, Abroms IF, Johnson JL, Carney M, Mandell R, Robb RM, Cloherty JP, Rajagopalan KV (1977) Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. N Engl J Med 297: 1022–1028
Vianey-Liaud C, Desjacques P, Gaulme J, Dorche C, Vanlieferinghen P, Dechelotte P, Divry P (1988) A new case of isolated sulfite oxidase deficiency with rapid fatal outcome. J Inherited Metab Dis 11:425–426
Wadman SK, Cats BP, De Bree PK (1983) Sulfite oxidase deficiency and the detection of urinary sulfite. Eur J Pediatr 141: 62–63
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van der Klei-van Moorsel, J.M., Smit, L.M.E., Brockstedt, M. et al. Infantile isolated sulphite oxidase deficiency: Report of a case with negative sulphite test and normal sulphate excretion. Eur J Pediatr 150, 196–197 (1991). https://doi.org/10.1007/BF01963565
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DOI: https://doi.org/10.1007/BF01963565