Medium-chain Acyl-CoA dehydrogenase deficiency
Medium-chain Acyl-CoA dehydrogenase deficiency Causes
The main cause of MCAD is genetic; mutations in the gene can cause insufficient levels of the medium-chain acyl-coenzyme. Being inherited, the condition follows an autosomal recessive pattern in which two copies of the defective gene in each cell are required for MCAD to be inherited; one inherited copy of the faulty gene means an individual becoming a carrier.
Medium-chain Acyl-CoA dehydrogenase deficiency Definition
By definition, this deficiency is a fatty acid oxidation disorder that is connected with inborn errors of metabolism errors that occur at birth The defect is found in the enzyme complex called medium-chain acyl dehydrogenase (MCAD) whose ability to function efficiently is reduced significantly. The disorder has also been known to cause (rarely) Sudden infant death syndrome or SIDS.
Medium-chain Acyl-CoA dehydrogenase deficiency Diagnosis
Diagnosis is usually focused on resulting complications the impairment of fatty acid oxidation.
Medium-chain Acyl-CoA dehydrogenase deficiency Symptoms and Signs
Significant symptoms manifest when the disorder deteriorates into fatty acid buildup, and metabolic conditions such as hypoglycemia and hyperammonemia. When this happens, typical symptoms include vomiting and extreme lethargy.
Medium-chain Acyl-CoA dehydrogenase deficiency Treatment
There is no cure for the deficiency but its adverse effects can be prevented by proper health management. Patients with the disorder should have adequate energy levels which mean no lengthy fasting. Lack of appetite caused by other illnesses or conditions makes it necessary for intravenous glucose to prevent the body from depending on fatty acids for energy. Patients with the disorder should stick to a low-fat diet. The taking of carnitine supplements have been shown to be effective in arresting toxic accumulation of fatty acids