The baby was born full term via spontaneous vaginal delivery to non-consanguineous parents (Table 1). He was breastfed every 3-4 h. At 57 h-of-life, he missed a feed stretching to a 6-h feeding interval. He was then noted to be hypothermic, pale and lethargic with a weak cry. He was also hypotonic and had hepatomegaly. He was transferred to the special care nursery. Investigations showed hypoglycaemia (1.5 mmol/L) and transaminitis (Table 1). He was treated with a 10% dextrose bolus (2 mL/kg) and maintained on Solution 120 (dextrose containing fluids) at 120 mL/kg/day. Within 24 h, the patient's lethargy, hypothermia and hypoglycaemia resolved but abnormal transaminases persisted. The metabolic service was consulted on day 4 of life and the differential diagnosis included fatty-acid oxidation and glycogen storage disorders. The patient was transferred to the tertiary hospital for management. Septic work-up was negative. The laboratory findings of rhabdomyolysis and transaminitis especially AST which is present in high concentrations in skeletal muscles were more in keeping with a fattyacid oxidation disorder. The abnormal acylcarnitine species (particularly C14:1 and its ratio to C10) in the dried blood spot, increased C4:1 species on qualitative analysis of the plasma carnitine and results of the genetic and enzymatic tests supported the diagnosis of VLCAD deficiency (Table 1). With low long-chain fat diet supplemented with medium-chain fats, the creatine kinase gradually decreased. Our patient had a severe and early clinical presentation with significant hypoglycaemia and rhabdomyolysis with no cardiac involvement. Management of the patient included a low long-chain fat diet supplemented with medium-chain fats and avoidance of prolonged fasting or dehydration to prevent complications such as hypoglycaemia and rhabdomyolysis. 2 When the patient is unwell, especially with poor oral intake, the parents have been advised to call the metabolic service and present early to an emergency department for prompt assessment and intravenous glucose therapy. This case highlights that: (i) a fatty acid oxidation disorder should be suspected in newborns/infants with unexplained hypoglycaemia and/or acute liver disease, rhabdomyolysis and cardiac arrhythmias/ cardiomyopathy; (ii) glucose-containing fluids should be started; (iii) newborns with a fatty-acid oxidation disorder can become symptomatic even before newborn bloodspot screening can be done; and (iv) Prompt referral to a metabolic service is recommended.
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