Abstract
3-Hydroxy-3-methylglutaryl-coenzyme A lyase (HMGCL, HMGCL) deficiency is a rare inborn error of ketogenesis. Even if the ketogenic enzyme is fully disrupted, an elevated signal for the ketone body ...
Highlights
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the 3-hydroxy-3methylglutaryl-coenzyme A lyase gene
HMGCLD impairs ketone body synthesis both from fatty acids and ketogenic amino acids, an elevated signal for the ketone body acetoacetic acid is a frequent observation in a laboratory where the derivatization in organic acid analysis is performed by methylation.[3,4]
Ketogenesis, the -mainly hepatic- formation of the ketone bodies acetoacetic acid and 3-hydroxy-n-butyric acid is the main path to the synthesis of ketone bodies[4]
Summary
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the 3-hydroxy-3methylglutaryl-coenzyme A lyase gene. It has first been described by Faull et al[1] in 1976; recently, we have reported the largest series so far of patients with this disease.. It has been speculated that the acetoacetate may be formed by bacterial degradation of 3-hydroxy-3-methylglutaric acid, but so far no evidence-based explanation of the origin of the acetoacetate has been given.[4] We have tested the hypothesis that the formation of an acetoacetic acid signal is due to conversion of 3-hydroxy-3-methylglutaric acid during the analysis by gas chromatography-mass spectrometry (GC-MS) that is performed when patterns of urinary organic acids are obtained
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