PMID: 2094674Sep 1, 1990Paper

The diagnosis and management of MSUD in Saudi Arabia by using two different methods

Indian Journal of Pediatrics
S B SubramanyamP T Ozand

Abstract

Plasma amino acid concentrations were measured in Maple Syrup Urine Disease (MSUD) infants using reversed phase high performance liquid chromatography (HPLC). The technique involved an automated data acquisition system and phenylisothiocyanate (PITC) pre-column derivatization. During a period of three years more than 14 cases of MSUD have been confirmed in our hospital suggesting an alarmingly high rate of incidence of this disease in the Kingdom as compared to the West. We present here a simple and reliable method of quantitating the branched chain and other amino acid concentrations in plasma samples of children with metabolic disorders. In addition, we also present a fluorimetric COBAS based enzymatic method for the rapid semiquantitative measurement of branched chain amino acids for a disease in which a prompt initial diagnosis is essential.

References

Jan 1, 1988·Journal of Inherited Metabolic Disease·G C Yadav, P C Reavey
Jul 15, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·M Gleeson, R J Maughan
May 1, 1985·Pediatric Research·P H ScottB A Wharton
Jul 1, 1970·The American Journal of Medicine·J D SchulmanJ E Seegmiller
Dec 9, 1982·The New England Journal of Medicine·A M DiGeorgeM Schwartz

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Citations

Sep 1, 1996·Indian Journal of Pediatrics·S B Subramanyam
Sep 15, 1992·American Journal of Medical Genetics·M StangenbergP Ozand
Aug 11, 2011·Luminescence : the Journal of Biological and Chemical Luminescence·Jamshid L ManzooriJalil Vaez-Gharamaleki

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