Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency
| Autor: | Toshio Yamamoto, Yoichi Wada, Tomoe Kanno, Ai Kurihara, Yuko Sato, Yasuko Mikami-Saito, Shigeo Kure, Natsuko Arai-Ichinoi, Masamitsu Maekawa |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Newborn screening
Social resource Physiology FAOD fatty acid oxidation disorder LC-MS/MS liquid chromatography-tandem mass spectrometry 03 medical and health sciences NBS newborn screening 0302 clinical medicine Endocrinology False-positive C8 octanoylcarnitine Genetics Medicine C10 decanoylcarnitine LC-HRMS/MS liquid chromatography-high resolution-tandem mass spectrometry lcsh:QH301-705.5 Molecular Biology ACADM Octanoylcarnitine lcsh:R5-920 0303 health sciences business.industry Environmental surveillance MCAD deficiency MCAD medium-chain acyl-CoA dehydrogenase 030305 genetics & heredity Decanoylcarnitine Medium-Chain Acyl-CoA Dehydrogenase Deficiency Public health care lcsh:Biology (General) Essential oils Critical illness lcsh:Medicine (General) business 030217 neurology & neurosurgery Research Paper |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100674-(2020) |
| ISSN: | 2214-4269 |
| Popis: | Newborn screening is a public health care program worldwide to prevent patients from critical illness or conditions. Tandem mass spectrometry allows multiplex, inexpensive, and rapid newborn screening. However, mass spectrometry used for newborn screening to date is not able to separate peaks of compounds with similar m/z, which could lead to false-positive results without additional second-tier tests, such as fragmentation. We experienced three neonatal cases with high levels of markers, octanoylcarnitine and octanoylcarnitine/decanoylcarnitine ratio used to pick up possible cases of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The babies were born consecutively in a maternity hospital. Their second acylcarnitine profiles were normal, and the genetic tests for ACADM were negative. Analysis of samples extracted from their first Guthrie cards where blood was not stained also showed peaks equivalent to octanoylcarnitine and decanoylcarnitine, indicating contamination. Environmental surveillance in the maternity ward suggested that essential oils used there might contain the contaminated compound. LC-HRMS/MS and in silico analysis revealed that false-positive results might be due to contamination with the essential oils in Guthrie cards, and causal agents were sphinganine (d17:0) and 2-[2-hydroxyethyl(pentadecyl)amino]ethanol. Thus, health care providers should be cautioned about use of essential oils when collecting blood samples on Guthrie cards. False-positive results can waste costly social resources and cause a physical and psychological burden for children and parents. |
| Databáze: | OpenAIRE |
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