Infant Journal
for neonatal and paediatric healthcare professionals

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

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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long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD); medium chain triglycerides; extreme prematurity; fatty acid oxidation defect; metabolic disorders
Key points
  1. 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.
  2. 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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Management considerations in congenital laryngotracheal stenosis
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