Advances in the use of computerized gas chromatography-mass spectrometry and high-performance liquid chromatography with rapid scanning detection for clinical diagnosis.
A multi-component analytical system designed for the diagnosis of metabolic disorders is described. The urinary components are separated by a variety of chromatographic techniques, including automated amino acid analysis, high-performance liquid chromatography with diode-array detection and gas chromatography-mass spectrometry with a computerized mass spectral library search for identification of organic acids. The complete system can be used to diagnose over 100 different metabolic diseases. The usefulness of the chromatographic system is exemplified by the pre- and postnatal diagnosis of glutaric aciduria type I, the diagnosis of lysinuric protein intolerance and of alkaptonuria. Drugs and diet may cause interfering metabolites, as exemplified by glycofurol, used as a solvent for intravenous drugs, and saccharin. It is predicted that chromatography and mass spectrometry will continue to be important diagnostic tools for many years ahead.
Jellum
E
E
Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway.
Thoresen
O
O
Horn
L
L
Seip
R
R
Nilsen
E
E
Kvittingen
E A
EA
Stokke
O
O
D000143:Acids / Q000652:urine; D000474:Alkaptonuria / Q000175:diagnosis / Q000652:urine; D002648:Child; D002851:Chromatography, High Pressure Liquid; D019411:Clinical Laboratory Techniques / Q000379:methods*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine; D006801:Humans; D007223:Infant; D008239:Lysine / Q000652:urine; D004364:Pharmaceutical Preparations / Q000652:urine
D000143:Acids; D005977:Glutarates; D004364:Pharmaceutical Preparations; C035736:glutaric acid; D008239:Lysine