Inborn disorder of ketolysis

rare

An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.

Identifiers: MONDO:0019229 Orphanet:79183
Part of: Disorder of fatty acid and ketone body metabolism Inherited lipid metabolism disorder
Also known as: inborn error of ketone body catabolic process · inborn ketone body catabolic process disorder · rare inborn error of ketone body catabolic process

Subtypes

Disease	ID	Subtypes	Genes
Beta-ketothiolase deficiency	MONDO:0008760		ACAT1
Succinyl-CoA:3-ketoacid CoA transferase deficiency	MONDO:0009492		OXCT1

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