Annals of Clinical Biochemistry > Volume 45, Number 5 > Pp. 524-526

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Case Reports

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

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}meht.nhs.uk

Mitochondrial acetoacetyl-CoA thiolase deficiency (or beta-ketothiolase deficiency) is a rare metabolic disorder characterized by acute episodes of severe acidosis and ketosis. A case is presented of an 18-month-old boy who presented with vomiting and diarrhoea and was found to be markedly acidotic. When the acidosis persisted despite saline fluid boluses and bicarbonate correction, further investigations were undertaken. Routine biochemical investigation revealed detectable salicylate concentrations despite the parents denying its administration, which initially caused some diagnostic confusion. The results of urine organic acid analysis, however, confirmed that the diagnosis of mitochondrial acetoacetyl-CoA thiolase deficiency. The high concentrations of acetoacetate present in the patient's sample resulted in a false-positive reaction in the Trinder assay for salicylate.

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