Open AccessManagement of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
Author(s) -
Shakerdi Loai A.,
McNulty Jenny,
Gillman Barbara,
McCarthy Claire M.,
Ivory Jessica,
Sheerin Alison,
O'Byrne James J.,
Donnelly Jennifer C.,
Treacy Eileen P.
Publication year - 2022
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12284
Subject(s) - rhabdomyolysis , medicine , hypotonia , pregnancy , carnitine , triglyceride , endocrinology , biology , genetics , cholesterol
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 LCHADD aims at preventing prolonged fasting and decreasing energy production from long‐chain fatty acids compensated by an increase in medium‐chain triglyceride fat. Herein, we present medical and dietetic management of a successful pregnancy in a LCHADD female patient and the delivery of a healthy baby boy.