Biomedical mass spectrometry 1980-02-01

Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia.

O A Mamer, J A Montgomery, E Colle

文献索引：Biomed. Mass Spectrom. 7(2) , 53-7, (1980)

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摘要

A patient with recurrent severe hypoglycemia resembling Reye's syndrome was found to have large accumulations of omega -- 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 ths variant presenting in other patients.