Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS.
The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid beta-oxidation. A stable isotope dilution gas chromatography negative chemical ionisation mass spectrometry method for the quantitative analysis of short- and medium-chain acylglycines as their bis(trifluoromethyl)benzyl (BTFMB) ester derivatives is described. The diagnostic usefulness of the method was demonstrated in nine patients with medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, and seven patients with multiple acyl-CoA dehydrogenation defect (MAD). The urinary acylglycine profiles in these patients were compared to those in controls (n = 19), children on a medium-chain triglyceride (MCT) supplemented diet (n = 4), and patients with various other diseases (n = 5).
Costa
C G
CG
Centro de Metabolismos e Genetica, Faculdade de Farmacia da Universidade de Lisboa, Portugal.
Guérand
W S
WS
Struys
E A
EA
Holwerda
U
U
ten Brink
H J
HJ
Tavares de Almeida
I
I
Duran
M
M
Jakobs
C
C
D000214:Acyl Coenzyme A / Q000378:metabolism; D042964:Acyl-CoA Dehydrogenase; D002648:Child; D002675:Child, Preschool; D044943:Fatty Acid Desaturases / Q000172:deficiency / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D005998:Glycine / Q000652:urine*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D008928:Mitochondria / Q000378:metabolism; D010084:Oxidation-Reduction; D012016:Reference Values; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D000214:Acyl Coenzyme A; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase; D005998:Glycine