what is inherited metabolic disorder
Inherited metabolic disorders are a range of diseases caused by defective genes. Though rare, they can have devastating consequences for patients and their families. Research by the pharmaceutical industry has led to many specialised treatments.n the human body, the urea cycle is the metabolic pathway allowing the transformation of ammonia into urea. In children with N-acetylglutamate synthetase (NAGS) deï¬ciency, the disorder leads to a build up of ammonia in the blood which can cause irreversible brain damage or death.
Appointments & care. At Mayo Clinic, we take the time to listen, to find answers and to provide you the best care. Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects â most commonly inherited from both parents â that interfere with the body's metabolism.These conditions may also be called inborn errors of metabolism.nherited metabolic disorders fall into different categories, depending on the specific substance and whether it builds up in harmful amounts (because it can't be broken down), it's too low, or it's missing. Some metabolic disorders can be diagnosed by routine screening tests done at birth.