Long-chain fatty acid oxidation disorder

A long-chain fatty acid oxidation disorder is a rare, autosomal recessive inborn error of metabolism caused by enzyme deficiencies in the mitochondrial transport or beta-oxidation of long-chain fatty acids This metabolic block impairs cellular energy production from lipids during periods of prolonged fasting, acute illness, or sustained physical exertion Pathophysiologically, the failure to generate downstream acetyl-CoA and ketone bodies triggers severe hypoketotic hypoglycemia, hyperammonemia,...

A long-chain fatty acid oxidation disorder is a rare, autosomal recessive inborn error of metabolism caused by enzyme deficiencies in the mitochondrial transport or beta-oxidation of long-chain fatty acids This metabolic block impairs cellular energy production from lipids during periods of prolonged fasting, acute illness, or sustained physical exertion Pathophysiologically, the failure to generate downstream acetyl-CoA and ketone bodies triggers severe hypoketotic hypoglycemia, hyperammonemia,...

This metabolic block impairs cellular energy production from lipids during periods of prolonged fasting, acute illness, or sustained physical exertion

It predominantly affects high-energy organ systems across neonatal, pediatric, and adult populations, primarily involving cardiac tissue, skeletal muscle, and the liver

It predominantly affects high-energy organ systems across neonatal, pediatric, and adult populations, primarily involving cardiac tissue, skeletal muscle, and the liver

Pathophysiologically, the failure to generate downstream acetyl-CoA and ketone bodies triggers severe hypoketotic hypoglycemia, hyperammonemia, hepatic dysfunction, hypertrophic or dilated cardiomyopathy, and recurrent rhabdomyolysis