Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency

Abstract Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a rare mitochondrial defect of β‐oxidation of long‐chain fatty acids. Patients may present with muscle pain, hypotonia, peripheral neuropathy, cardiomyopathy, recurrent rhabdomyolysis and sudden death. Dietary management of L...

詳細記述

書誌詳細
主要な著者: Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
フォーマット: 論文
言語:English
出版事項: Wiley 2022-07-01
シリーズ:JIMD Reports
主題:
オンライン・アクセス:https://doi.org/10.1002/jmd2.12284