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

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...

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Những tác giả chính: Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: Wiley 2022-07-01
Loạt:JIMD Reports
Những chủ đề:
acylcarnitine
long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
pregnancy
rhabdomyolysis
Truy cập trực tuyến:https://doi.org/10.1002/jmd2.12284

Internet

https://doi.org/10.1002/jmd2.12284

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