Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.
In a selective screening for fatty acid oxidation disorders by tandem mass spectrometry, we tested the diagnostic ratios and acylcarnitine concentrations in sera or blood spots, which were reported to be specific to very long-chain acyl CoA dehydrogenase deficiency, carnitine palmitoyltransferase I deficiency, and carnitine palmitoyltransferase II deficiency. While the acylcarnitine profiles in the majority of these patients were typical in the respective disorders, some overlapping of the indices was observed between these patients and the infants, who showed symptoms mainly related to hypoglycemia but did not have the disorders mentioned above. Although the diagnostic ratio of tetradecenoylcarnitine to dodecanoylcarnitine for very long-chain acyl CoA dehydrogenase deficiency seemed to minimize the overlapping in this study, additional measures including careful assessment of clinical data and enzyme assays may be necessary for the diagnosis in atypical cases.
Shigematsu
Yosuke
Y
Department of Health Science, School of Nursing, Fukui Medical University, Matsuoka-cho, Fukui 910-1193, Japan. yosuke@fmsrsa.fukui-med.ac.jp
Hirano
Satoko
S
Hata
Ikue
I
Tanaka
Yukie
Y
Sudo
Masakatsu
M
Tajima
Tsuyoshi
T
Sakura
Nobuo
N
Yamaguchi
Seiji
S
Takayanagi
Masaki
M
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000097:blood; D000293:Adolescent; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005227:Fatty Acids / Q000032:analysis*; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology; D013058:Mass Spectrometry / Q000379:methods*; D010084:Oxidation-Reduction
D005227:Fatty Acids; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002334:Carnitine O-Palmitoyltransferase