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...

Cijeli opis

Bibliografski detalji
Glavni autori: 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: Članak
Jezik:English
Izdano: Wiley 2022-07-01
Serija:JIMD Reports
Teme:
acylcarnitine
long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
pregnancy
rhabdomyolysis
Online pristup:https://doi.org/10.1002/jmd2.12284

Internet

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

Slični predmeti