VLCAD deficiency can present in the newborn period with arrhythmias
and sudden death, or with hepatic, cardiac, or muscle presentations
later in infancy or childhood. The hepatic presentation is characterized
by fasting-induced hypoketotic hypoglycemia, encephalopathy, and
mild hepatomegaly, often with mild acidosis, hyperammonemia, and
elevated liver transaminases. Some patients present with arrhythmias
or dilated or hypertrophic cardiomyopathy in infancy or childhood,
and a few patients present with exercise-induced muscle pain, rhabdomyolysis,
elevated creatine kinase levels, and myoglobinuria. Most VLCAD-deficient
patients present early with severe cardiomyopathy, and their outcome
is poor.