[PDF] Defects of ketone metabolism : acute decompensation

British Inherited Metabolic Disease Group
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
22 May 2013



Ketone bodies are formed as part of the normal response to fasting. Two enzymes are necessary for their utilisation - Succinyl-CoA 3-oxoacid CoA transferase (SCOT) and  3- oxothiolase  deficiency, more commonly called ß-ketothiolase deficiency. Patients with these disorders are well most of the time without intervention. They can, however, develop severe ketoacidosis if  fasted for a prolonged period or during minor illnesses (particularly if there is vomiting). This complication can be prevented by maintaining a high carbohydrate intake, enterally or  intravenously. If patients become severely acidotic, they will also require intravenous sodium bicarbonate, with frequent monitoring of blood gases and electrolytes.

Sections of this guideline include: background, admission, initial and ongoing management, oral and intravenous feeding, progress monitoring and discharge.