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

Abstract:

: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.

journal_name

Ann Clin Biochem

authors

Tilbrook LK,Slater J,Agarwal A,Cyriac J

doi

10.1258/acb.2008.007202

subject

Has Abstract

pub_date

2008-09-01 00:00:00

pages

524-6

issue

Pt 5

eissn

0004-5632

issn

1758-1001

pii

45/5/524

journal_volume

45

pub_type

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