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...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Format: Artykuł
Język:English
Wydane: Wiley 2022-07-01
Seria:JIMD Reports
Hasła przedmiotowe:
acylcarnitine
long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
pregnancy
rhabdomyolysis
Dostęp online:https://doi.org/10.1002/jmd2.12284

Internet

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

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