Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment鈥擜 retrospective chart review
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- 作者：Jerry Vockleya ; b ; gerard.vockley@chp.edu" class="auth_mail" title="E-mail the corresponding author ; Deborah Marsdenc ; Elizabeth McCrackena ; Stephanie DeWarda ; Amanda Baronea ; Kristen Hsuc ; Emil Kakkisc
- 关键词：CACT ; carnitine acylcarnitine translocase ; CM ; cardiomyopathy ; CRF ; case report forms ; ECHO ; echocardiography ; ER ; emergency room ; LC-FAOD ; long chain fatty acid oxidation disorder ; MCT ; Medium Chain Triglyceride ; TFP ; trifunctional protein ; CK ; creatine kinase ; CPT ; carnitine palmitoyltransferase deficiencies ; ICU ; intensive care unit ; IQR ; interquartile range ; IV ; intravenous ; LCHAD ; long-chain 3-hydroxy-acyl-CoA dehydrogenase ; VLCAD ; very long chain acyl-CoA dehydrogenase
- 刊名：Molecular Genetics and Metabolism
- 出版年：2015
- 出版时间：September-October 2015
- 年：2015
- 卷：116
- 期：1-2
- 页码：53-60
- 全文大小：856 K
文摘
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Fatty acid oxidations are serious inborn errors of metabolism that are significant causes of morbidity and mortality in patients of all ages.
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Dietary therapy has been only partially successful in preventing symptoms.
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We present a retrospective analysis of the use of a novel therapy for fatty acid oxidation disorders, triheptanoin.
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This medication was effective in nearly eliminating episodes of low blood sugar and decreased muscle symptoms and hospital days for patients during acute episodes.
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Additional clinical trials are planned.