An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency

Ann Clin Biochem 2008;45:524-526
© 2008 Association for Clinical Biochemistry



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Case Reports

L K Tilbrook1,
J Slater1,
A Agarwal2 and
J Cyriac2

1 Department of Clinical Biochemistry;
2 Department of Paediatrics, Mid Essex Hospital Services NHS Trust, Broomfield Hospital, Chelmsford, Essex CM1 5ET, UK

Corresponding author: Dr L K Tilbrook. Email: louise.tilbrook{at}

Mitochondrial acetoacetyl-CoA thiolase deficiency (or beta-ketothiolasedeficiency) is a rare metabolic disorder characterized by acuteepisodes of severe acidosis and ketosis. A case is presentedof an 18-month-old boy who presented with vomiting and diarrhoeaand was found to be markedly acidotic. When the acidosis persisteddespite saline fluid boluses and bicarbonate correction, furtherinvestigations were undertaken. Routine biochemical investigationrevealed detectable salicylate concentrations despite the parentsdenying its administration, which initially caused some diagnosticconfusion. The results of urine organic acid analysis, however,confirmed that the diagnosis of mitochondrial acetoacetyl-CoAthiolase deficiency. The high concentrations of acetoacetatepresent in the patient’s sample resulted in a false-positivereaction in the Trinder assay for salicylate.

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