Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.
Direct analysis of unpurified urine from patients with beta-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.
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
D S
DS
Millington
C R
CR
Roe
D A
DA
Maltby
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000138:Acidosis / Q000201:enzymology / Q000652:urine*; D000217:Acyltransferases / Q000172:deficiency*; D002331:Carnitine; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine*; D006801:Humans; D013058:Mass Spectrometry
D005977:Glutarates; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase; D002331:Carnitine