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An HPLC assay for detection of elevated urinary S ‐sulphocysteine, a metabolic marker of sulphite oxidase deficiency
Author(s) -
Johnson J. L.,
Rajagopalan K. V.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711371
Subject(s) - molybdenum cofactor , sulfite oxidase , urinary system , metabolite , derivatization , high performance liquid chromatography , chemistry , enzyme , oxidase test , biochemistry , cofactor , molybdenum , urine , chromatography , endocrinology , biology , organic chemistry
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 modified S ‐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.