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Mass spectrometry in diagnosis of metabolic disorders
Author(s) -
Jellum Egil,
Kvittingen Eli Anne,
Stokke Oddvar
Publication year - 1988
Publication title -
biomedical and environmental mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 0887-6134
DOI - 10.1002/bms.1200160111
Subject(s) - mass spectrometry , chromatography , gas chromatography–mass spectrometry , chemistry , urine , gas chromatography , excretion , urinary system , medicine , biochemistry
Mass spectrometry is an important part of multicomponent analytical systems designed for diagnosis of metabolic disorders. In our laboratory capillary gas chromatography/mass spectrometry (GC/MS) with computerized library search is used primarily to separate and identify urinary organic acids. About 50 different diseases with increased excretion of organic acids are recognized today. Other techniques, including thin‐layer chromatography, high‐performance liquid chromatography with diode array detector, automatic amino acid analysis and two‐dimensional electrophoresis are used to detect other compounds of diagnostic significance. The diagnostic use of GC/MS is exemplified by studies on two siblings. One died ofhis disease at approximately 1 year old. Both excreted 3‐hydroxydicarboxylic acids (C 8 C 12 ) as identified by mass spectrometry. These metabolites are secondary to systemic carnitine deficiency. Low‐fat diet normalized the clinical condition of the surviving sibling. GC/MS is now used to monitor the efficacy of dietary treatment by analysing the dicarboxylic acid excretion in this patient. Modern DNA technology is rapidly becoming increasingly important for diagnosis, particularly prenatal diagnosis, of metabolic diseases. It is suggested, however, that mass spectrometry will continue to be an important diagnostic tool for many years ahead.