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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
التنسيق: مقال
اللغة:English
منشور في: Wiley 2022-07-01
سلاسل:JIMD Reports
الموضوعات:
الوصول للمادة أونلاين:https://doi.org/10.1002/jmd2.12284