Clinical features: Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is an inherited metabolic condition that affects the individual’s ability to metabolise medium-chain fatty acids. This means that if the period of ‘starvation’ between meals is extended unduly the individual is at risk of experiencing metabolic crisis which may result in coma and death. This condition can be managed through diet and individuals with this condition survive into adulthood with a normal life expectancy.
Incidence: MCADD occurs in one in 10, 000 births
Inheritance: This is an autosomal recessive condition which results from an alteration in the ACADM gene.
For more information about the identification and treatment of infants, children and adults with MCADD please take a look at the following e-learning resources:
This e-learning resource, designed for dieticians, explains MCADD, an inherited metabolic condition
This e-learning resource, designed for dieticians, explains MCADD, an inherited metabolic condition. Doctors, health visitors and paediatric nurses may also find it useful