2 mercapto ethanesulfonate cysteine di sulfide excretion following the administration of 2 mercapto ethanesulfonate a pitfall in the diagnosis of sulfite oxidase ec deficiency

Duran, M.; Aarsen, G.; Fokkens, R.H.; Nibbering, N.M.M.; Cats, B.P.; De-Bree, P.K.; Wadman, S.K.

Clinica Chimica Acta 111(1): 47-54


ISSN/ISBN: 0009-8981
Accession: 004536127

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In the urine of a neonate with respiratory insufficiency and convulsions a positive sulfite reaction was found, which is suggestive of sulfite oxidase deficiency. The nitroprusside reaction also was positive. More detailed investigations showed that both tests were positive due to the administration of 2-mercaptoethanesulfonate, a mucolytic drug. The patient's urine contained an acidic amino acid with a column chromatographic behavior like S-sulfocysteine. The high-voltage electrophoretic mobility was slightly different. This compound was isolated from the urine and identified as the mixed disulfide of 2-mercaptoethanesulfonate and cysteine. Its identity was proven with field desorption mass spectrometry, a technique which is suitable for the analysis of sulfonic acid derivatives.