ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Propionic acidaemia (McKusick 23200) is caused by reduced activity of propionyl-CoA carboxylase (EC 6.4.1.3). A number of metabolites characteristic of this disease are excreted in patients' urine. We have developed a method of chemical diagnosis using gas chromatography-mass spectrometry (GC-MS). Since our first chemical diagnosis (Matsumotoet al., 1978), we have diagnosed seven patients. Profiles of urinary acids, however, varied from patient to patient. Factors affecting these profiles may be genetic make-up, age, or the patient's clinical and nutritional conditions. We have compared two metabolic profiles of a girl under different clinical conditions and found increased excretion of acetyl-CoA precursors during clinical episodes.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02179147
