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...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak: Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Formatua: Artikulua
Hizkuntza:English
Argitaratua: Wiley 2022-07-01
Saila:JIMD Reports
Gaiak:
acylcarnitine
long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
pregnancy
rhabdomyolysis
Sarrera elektronikoa:https://doi.org/10.1002/jmd2.12284

Internet

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

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