Non-invasive method for the functional assessment of infants and

Surgery – Diagnostic testing – Respiratory

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600531, A61B 508

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059249951

ABSTRACT:
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 .sup.13 C, analyzing the breath samples for the isotopic abundance of .sup.13 CO.sub.2, and calculating the quantity of substrate oxidized for determining the rate of substrate oxidation.

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Elsas LJ, Ellerine NP, Klein PD. Practical Methods To Estimate Whole Body Leucine Oxidation in Maple Syrup Urine Disease. Pediatric Research published 1993; vol. 33, No. 5, pp. 445-451.
Ellerine NP, Herring W, Elsas LP II, McKean MC, Klein PD, Danner DJ, Thiamin-Responsive Maple Syrup Urine Disease In A Patient Antigenically Missing Dihydrolipoamide Acyltransferase. Biochemical Medicine and Metabolic Biology, published 1993; vol. 49, pp. 363-374.
Berry GT, Nissim I., Gibson JB, Mazur AT, Lin Z, Elsas LJ, Singh RH, Klein PD, Segal S. Quantitative Assessment of Whole Body Galactose Metabolism In Galactosemic Patients. Eur J. Pediatr (1997) Suppl 1); pp. S43-S49.

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