Non-invasive method for the functional assessment of infants and children with an inherited metabolic disorder

摘要

A non-invasive method for the functional assessment of an inherited metabolic disorder in infants and children including administering to the patient a predetermined substrate labeled with a stable non-radioactive isotope of carbon 13C, analyzing the breath samples for the isotopic abundance of 13CO2, and calculating the quantity of substrate oxidized for determining the rate of substrate oxidation.