Ketoacidosis due to beta-ketothiolase deficiency (Q86109): Difference between revisions

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Latest revision as of 11:28, 15 August 2026

Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterised by normal early development followed by a progressive loss of mental and motor skills, intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma.

Language	Label	Description	Also known as
default for all languages	ID_2139994596
English	Ketoacidosis due to beta-ketothiolase deficiency	Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterised by normal early development followed by a progressive loss of mental and motor skills, intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma.