" /> Ketoacidosis due to beta-ketothiolase deficiency - CISMeF





Preferred Label : Ketoacidosis due to beta-ketothiolase deficiency;

ICD-11 definition : Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterized 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.;

ICD-11 synonym : MAT - [Alpha methyl acetoacetyl-CoA thiolase] deficiency; MAT deficiency; Alpha methyl acetoacetyl-CoA thiolase deficiency; Mitochondrial 2-methylacetoacetyl-Coa thiolase deficiency, potassium-stimulated;

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Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterized 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.

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30/07/2025


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