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Characterization of new diagnostic acylcarnitines in patients with β‐ketothiolase deficiency and glutaric aciduria type I using mass spectrometry
Author(s) -
Millington David S.,
Roe Charles R.,
Maltby David A.
Publication year - 1987
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.1200141204
Subject(s) - glutaric acid , chemistry , mass spectrometry , urine , carnitine , chromatography , biochemistry
Direct analysis of unpurified urine from patients with β‐ketothiolase deficiency and glutaryl‐coenzyme A dehydrogenase deficiency was carried out by methylation and fast atom bombardment mass spectrometry. Previously unidentified signals consistent with unusual acylcarnitines were detected. In the former disease, thermospray liquid chromatography/mass spectrometry analysis confirmed the identification of tiglylcarnitine and differentiated it from a biological isomer, 3‐methylcrotonylcarnitine. In glutaric aciduria, glutarylcarnitine was confirmed by detection of glutaric acid liberated upon base hydrolysis of a purified acylcarnitine fraction. The discovery of these metabolites suggests that L ‐carnitine therapy might be beneficial for the enhanced excretion of toxic metabolites that accumulate in patients with these disorders.