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Updated: Sep 5, 2025

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
Published on: June 28, 2024
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency
Loai A Shakerdi1, Jenny McNulty2, Barbara Gillman1
1National Centre for Inherited Metabolic Disorders Mater Misericordiae University Hospital Dublin Ireland.
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 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.
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