[PDF] MCAD deficiency : management of newborn babies with a family history

British Inherited Metabolic Disease Group
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
10 July 2012


 MCAD deficiency is an inherited disorder of fat breakdown and one of the commonest inborn errors of metabolism. Most of the time patients are healthy and do not require a special diet. Infections, fasting or vomiting can lead to serious illness, with encephalopathy (drowsiness, seizures etc) and a risk of sudden death. This results from the accumulation of toxic fatty acids. Hypoglycaemia also occurs, but only at a relatively late stage so it is not safe to base the management on monitoring of blood glucose, particularly with bedside glucose strips. The aim of treatment is to provide an alternative energy substrate and inhibit mobilisation of fatty acids by providing ample glucose - enterally or intravenously.

Sections of this guideline include: diagnosis, management and problems.