Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a mitochondrial effect of impaired enzyme function.
LCHAD performs the dehydrogenation of hydroxyacyl-CoA derivatives, facilitating the removal of hydrogen and the formation of a keto group. This reaction is essential for the subsequent steps in beta oxidation that lead to the production of acetyl-CoA, NADH, and FADH2, which are important for generating ATP, the energy currency of the cell.  
Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a condition that affects mitochondrial function due to enzyme impairments. LCHAD deficiency is specifically caused by a shortfall in the enzyme long-chain 3-hydroxyacyl-CoA dehydrogenase. This leads to the body's inability to transform specific fats into energy, especially during fasting periods.
* Severe Phenotype: symptoms appear soon after birth and include hypoglycemia, hepatomegaly, brain dysfunction (encephalopathy) and often cardiomyopathy
* Intermediate Phenotype: characterized by hypoketotic hypoglycemia and is triggered by infection or fasting during infancy
* Mild (Late-Onset) Phenotype: presents as muscle weakness (myopathy) and nerve disease (neuropathy)
* Long-Term Complications: can include peripheral neuropathy and eye damage (retinopathy)
* Regular feeding to avoid fasting
* Use of medium-chain triglyceride (MCT) or triheptanoin supplements and carnitine supplements
* Low-fat diet
* Hospitalization with intravenous fluids containing at least 10% dextrose
* Bicarbonate therapy for severe metabolic acidosis
* Management of high ammonia levels and muscle breakdown
* Cardiomyopathy management
* Regular monitoring of nutrition, blood and liver tests with annual fatty acid profile
* Growth, development, heart and neurological assessments and eye evaluations