MCAD deficiency

Medium chain acylcoenzyme A dehydrogenase A deficiency (medium chain acylcoenzyme A dehydrogenase, MCAD) is a relatively common inherited metabolic disorder of mitochondrial fatty acid β-oxidation metabolism. The incidence in the UK and US is 1: 10,000.

Clinical signs
Life-threatening hypoglycemia occurs during starvation, and infections are also common. The disease manifests itself in infancy, with a positive prognosis for survival into old age.

Therapy
The treatment of MCAD deficiency consists in:
 * starvation prevention;
 * corn starch nutrition;
 * parenteral nutrition must be instituted in lethargy and vomiting leading to coma (differential diagnostic attention to Reye's syndrome).

Related articles

 * Mitochondrial diseases