[PDF] Isovaleric acidaemia : acute decompensation

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


Isovaleric acidaemia is caused by a deficiency of isovaleryl CoA dehydrogenase, an enzyme on the catabolic pathway of leucine. Treatment is aimed at reducing production of isovaleric and increasing its removal. The patients are treated with a low protein diet, glycine and carnitine. 

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