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...

Полное описание

Библиографические подробности
Главные авторы: Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Формат: Статья
Язык:English
Опубликовано: Wiley 2022-07-01
Серии:JIMD Reports
Предметы:
acylcarnitine
long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
pregnancy
rhabdomyolysis
Online-ссылка:https://doi.org/10.1002/jmd2.12284

Internet

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

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