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

Ann Clin Biochem 2008;45:524-526
doi:10.1258/acb.2008.007202
© 2008 Association for Clinical Biochemistry

 

 

This Article
Right arrow
Full Text
Right arrow

Full Text (PDF)

Right arrow
Alert me when this article is cited
Right arrow
Alert me if a correction is posted
Services
Right arrow
Email this article to a friend
Right arrow

Similar articles in this journal

Right arrow
Similar articles in PubMed
Right arrow
Alert me to new issues of the journal
Right arrow
Download to citation manager
Right arrow
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow
Articles by Tilbrook, L K
Right arrow
Articles by Cyriac, J
Right arrow Search for Related Content
PubMed
Right arrow
PubMed Citation
Social Bookmarking

What’s this?

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}meht.nhs.uk

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.


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What’s this?