Infantile isolated sulphite oxidase deficiency : report of a case with negative sulphite test and normal sulphate excretion

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 sul...

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Bibliographic Details
Published in:European journal of pediatrics 1991, Vol.150 (3), p.196-197
Main Authors: VAN DER KLEIN-VAN MOORSEL, J. M, SMIT, L. M. E, BROCKSTEDT, M, JAKOBS, C, DORCHE, C, DURAN, M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Humans
Infant
Male
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - urine
Oxidoreductases Acting on Sulfur Group Donors - deficiency
Sulfates - urine
Sulfites - urine
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF01963565