[PDF] Long chain fat oxidation disorders : acute decompensation VLCAD, LCHAD, CPT II

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



These conditions are all disorders of the breakdown of fatty acids. The patients are treated with a low fat high carbohydrate diet with avoidance of fasting. (Even overnight fasting is avoided - patients either have a continuous tube feed or are woken and fed; some older children take uncooked corn-starch before bed).Most of the time patients are healthy but infections, fasting or vomiting can lead to serious illness with encephalopathy and even sudden death. The early signs of decompensation may be subtle, lethargy and /or ‘floppiness’. Always listen to parents  carefully as they probably know much more than you do. Hypoglycaemia only occurs at a relatively late stage so that bedside test for glucose should not be relied on. Do not delay  treatment just because the blood glucose is not low.  The aim should always be to intervene whilst the blood glucose is normal. Treatment aims to prevent mobilisation of fat by providing  ample glucose - enterally or intravenously. 


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