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 Biochemjournal_title
Annals of clinical biochemistryauthors
Tilbrook LK,Slater J,Agarwal A,Cyriac Jdoi
10.1258/acb.2008.007202subject
Has Abstractpub_date
2008-09-01 00:00:00pages
524-6issue
Pt 5eissn
0004-5632issn
1758-1001pii
45/5/524journal_volume
45pub_type
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