Catalog

Ketoacidosis due to beta-ketothiolase deficiency

No MMS code

Link to WHO Definition

Ketoacidosis due to beta-ketothiolase deficiency – http://id.who.int/icd/entity/2139994596

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.