Abstract
Disorders of fatty acid oxidation are rare but can be fatal. Hypoglycaemia with acidosis is a cardinal feature. Cases may present during early childhood or can be delayed into adolescence or beyond. We present a case of multiple acyl-coenzyme A dehydrogenase deficiency (MADD), an extremely rare disorder of fatty acid oxidation. Our 20-year-old patient presented with cardiovascular collapse, raised anion gap metabolic acidosis and non-ketotic hypoglycaemia. She subsequently developed multi-organ failure and sadly died. She had a previous diagnosis of cyclic vomiting syndrome (CVS) for more than 10 years, warranting frequent hospital admissions. The association between CVS and MADD has been made before though the exact relationship is unclear. All patients with persistent severe CVS should have metabolic investigations to exclude disorders of fatty acid oxidation. In case of non-ketotic hypoglycaemia with acidosis, the patient should be urgently referred to a specialist in metabolic diseases. All practitioners should be aware of these rare disorders as a cause of unexplained acidosis.
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Acknowledgements
We thank Professor Billy Bourke, the consultant paediatric gastroenterologist of Our Lady's Children's Hospital, Crumlin, Dublin 12; Professor Kieran Sheehan, the consultant pathologist of St Vincent's University Hospital; and Professor Michael Farrell, the consultant neuropathologist of Beaumont University Hospital, Dublin 9. We would also thank the institutions where the work was performed, namely St Vincent's University Hospital, Elm Park, Dublin 4, Ireland and National Centre for Inherited Metabolic Disorders, the Children's University Hospital, Dublin, Ireland.
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Fitzgerald, M., Crushell, E. & Hickey, C. Cyclic vomiting syndrome masking a fatal metabolic disease. Eur J Pediatr 172, 707–710 (2013). https://doi.org/10.1007/s00431-012-1852-z
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DOI: https://doi.org/10.1007/s00431-012-1852-z