ketothiolase deficiency

'ketothiolase deficiency' can also refer to...


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A disorder of isoleucine catabolism (α-methylacetoacetic aciduria, 3-oxothiolase deficiency) caused by mutation in the mitochondrial acetyl-CoA acetyltransferase-1 gene (ACAT1). There are intermittent episodes of ketoacidosis and unconsciousness.

Subjects: Medicine and Health.

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