Lcad deficiency stands for Long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) impairment is an uncommon disorder in which the body is unable to convert specific fats to energy, particularly when fasting (fasting).
Causes of Lcad deficiency
- LCAD deficiency is caused by sudden changes in the HADHA gene.
- The HADHA gene codes for a component of an enzyme complex known as mitochondrial trifunctional protein.
- This enzyme complex works in mitochondria, which are the energy-producing centers of cells.
- The mitochondrial trifunctional protein, as the name implies, includes three enzymes, each of which performs a separate role.
- This enzyme complex is necessary for the breakdown of a kind of fat known as long-chain lipids.
- Long-chain fatty acids can be present in milk and some oils.
- These fatty acids are deposited in the fat tissues of the body.
- The cardiac and muscles rely heavily on fatty acids for energy.
- Fatty acids are also a significant source of energy for the liver and other tissues during fasting periods.
- Mutations in the HADHA chromosome that produce LCHAD shortage affect one of the enzyme complex's activities.
- These mutations inhibit long-chain fatty acid processing from meals and body fat.
- As a consequence, these fatty acids do not turn into energy, which might result in symptoms of this illness, including lethargy and hypoglycemia. Long-chain fatty acids and partially digested fatty acids can also accumulate and cause harm to the liver, cardiac, muscles, and retina in the eye.
- The other indications and signs of LCHAD shortage are caused by this aberrant accumulation.
Feeding difficulties,Lack of energy,Low blood sugar, weak muscle tone,Liver problems,Abnormalities in the light-sensitive tissue at the back of the eye