ISSN:
1052-9306
Keywords:
Chemistry
;
Analytical Chemistry and Spectroscopy
Source:
Wiley InterScience Backfile Collection 1832-2000
Topics:
Chemistry and Pharmacology
Notes:
A patient with recurrent severe hypoglycemia resembling Reye's syndrome was found to have large accumulations of ω - 1 hydroxy and keto acids in serum and urine that persisted following clinical recovery. A deficiency of mitochondrial medium chain acyl CoA dehydrogenase activity is proposed on the basis of evidence obtained using gas chromatographic mass spectrometric techniques. Analytical data is presented that will allow the recognition of this variant presenting in other patients.
Additional Material:
7 Ill.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1002/bms.1200070203
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