Axial hypotonia indicative of dilated cardiomyopathy following primary carnitine insufficiency

Primary systemic carnitine deficiency is a potentially lethal fatty acid oxidation disorder. It is usually characterized by cardiomyopathy occurring in early childhood, often associated with weakness and hypotonia, failure to thrive, and recurrent hypoketotic hypoglycaemic attacks. Three tissues / organs are affected in the primary carnitine deficiency: the heart muscle which causes progressive cardiomyopathy; central nervous system which is affected by encephalopathy due to hypoglycemia.