LCHAD deficiency and extreme prematurity: challenging aspects of nutritional management
In this article we present the case of an extremely preterm female infant who was born at 22+5 weeks’ gestation following an antepartum haemorrhage. A postnatal genetic diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency was made. LCHAD deficiency is a complex metabolic condition, which can be even more challenging to treat when combined with extreme prematurity. Using specialised milk formulas in an extremely preterm infant was a difficult decision; this case report aims to highlight such nutritional and metabolic challenges.
Hiba Ahmed1
Paediatrics Specialty Trainee ST4
hiba.ahmed4@nhs.net
Katherine Pettinger2
Neonatal Registrar
Sally Aitken1
Paediatric Dietitian, Team Leader
Hassan Gaili1
Consultant Neonatologist
1Hull University Teaching Hospitals NHS Trust
2Bradford Teaching Hospital NHS Foundation Trust

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- LCHAD deficiency is a severe and rare form of fatty acid oxidation defect. The primary goals are to prevent fasting and to decrease dietary intake of long-chain fatty acids.
- The coexistence of extreme prematurity and metabolic disorders necessitates multidisciplinary management invol-ving dietitians and neonatal medicine, genetics and metabolic teams.
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