Canaan is a thriving, active 2-year-old boy with a rare metabolic condition called VLCAD. He lives with his parents in Georgia. He was picked up on the Expanded Newborn Screening at 6 days old and has done extremely well dueRead more
Very long-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a fatty acid oxidation (FAO) disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they usually involve muscle pain and the breakdown of muscle tissue (rhabdomyolysis). VLCAD is associated with high mortality unless treated promptly; milder variants exist. Features of severe VLCAD deficiency in infancy include hepatomegaly, cardiomyopathy and arrhythmias, lethargy, hypoketotic hypoglycemia, and failure to thrive.