2015 Fiscal Year Final Research Report
A study on clinical features and pathophysiology of drug-induced carnitine deficiency
Project/Area Number |
25461552
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Shimane University |
Principal Investigator |
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Project Period (FY) |
2013-04-01 – 2016-03-31
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Keywords | カルニチン欠乏症 / タンデムマス / ピボキシル基 / シベレスタット / 遊離カルニチン / 全身性カルニチン欠乏症 / 急性脳症 / 低血糖 |
Outline of Final Research Achievements |
In this study, we mainly focused on secondary carnitine deficiency due to pivalete-conjugated drugs. We retrospectively investigated the age, clinical manifestations, PCA administration period, and background of 25 patients who showed a decrease in free carnitine (C0, nmol/mL) concomitant with an increase in pivaloyl carnitine (C5) on acylcarnitine analysis with tandem mass spectrometry. Carnitine deficiency resulting from PCA treatment was most frequently observed in 1-year-old infants. Most patients manifested acute encephalopathy and/or hypoglycemia. Some patients developed carnitine deficiency after PCA administration for <14 days. We reported two patients who showed increased value of C5 by sivelestat sodium. In the present study, we developed an in vitro probe assay for analyzing intra-and extra-cellular ACs.
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Free Research Field |
先天代謝異常症、小児内分泌学
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