1. Academic Validation
  2. Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination

Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination

  • J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):63-72. doi: 10.1016/s1570-0232(03)00281-2.
Yosuke Shigematsu 1 Satoko Hirano Ikue Hata Yukie Tanaka Masakatsu Sudo Tsuyoshi Tajima Nobuo Sakura Seiji Yamaguchi Masaki Takayanagi
Affiliations

Affiliation

  • 1 Department of Health Science, School of Nursing, Fukui Medical University, Matsuoka-cho, Fukui 910-1193, Japan. yosuke@fmsrsa.fukui-med.ac.jp
Abstract

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.

Figures
Products