Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids
Joint Authors
Yuasa, Miori
Hata, Ikue
Sugihara, Keiichi
Isozaki, Yuko
Hara, Keiichi
Tajima, Go
Shigematsu, Yosuke
Ohshima, Yusei
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-02-07
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
Because tandem mass spectrometry- (MS/MS-) based newborn screening identifies many suspicious cases of fatty acid oxidation and carnitine cycle disorders, a simple, noninvasive test is required to confirm the diagnosis.
We have developed a novel method to evaluate the metabolic defects in peripheral blood mononuclear cells loaded with deuterium-labeled fatty acids directly using the ratios of acylcarnitines determined by flow injection MS/MS.
We have identified diagnostic indices for the disorders as follows: decreased ratios of d27-C14-acylcarnitine/d31-C16-acylcarnitine and d23-C12-acylcarnitine/d31-C16-acylcarnitine for carnitine palmitoyltransferase-II (CPT-II) deficiency, decreased ratios of d23-C12-acylcarnitine/d27-C14-acylcarnitine for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and increased ratios of d29-C16-OH-acylcarnitine/d31-C16-acylcarnitine for trifunctional protein (TFP) deficiency, together with increased ratios of d7-C4-acylcarnitine/d31-C16-acylcarnitine for carnitine palmitoyltransferase-I deficiency.
The decreased ratios of d1-acetylcarnitine/d31-C16-acylcarnitine could be indicative of β-oxidation ability in patients with CPT-II, VLCAD, and TFP deficiencies.
Overall, our data showed that the present method was valuable for establishing a rapid diagnosis of fatty acid oxidation disorders and carnitine cycle disorders and for complementing gene analysis because our diagnostic indices may overcome the weaknesses of conventional enzyme activity measurements using fibroblasts or mononuclear cells with assumedly uncertain viability.
American Psychological Association (APA)
Yuasa, Miori& Hata, Ikue& Sugihara, Keiichi& Isozaki, Yuko& Ohshima, Yusei& Hara, Keiichi…[et al.]. 2019. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids. Disease Markers،Vol. 2019, no. 2019, pp.1-11.
https://search.emarefa.net/detail/BIM-1147036
Modern Language Association (MLA)
Yuasa, Miori…[et al.]. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids. Disease Markers No. 2019 (2019), pp.1-11.
https://search.emarefa.net/detail/BIM-1147036
American Medical Association (AMA)
Yuasa, Miori& Hata, Ikue& Sugihara, Keiichi& Isozaki, Yuko& Ohshima, Yusei& Hara, Keiichi…[et al.]. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids. Disease Markers. 2019. Vol. 2019, no. 2019, pp.1-11.
https://search.emarefa.net/detail/BIM-1147036
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147036