[HTML][HTML] 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
I Manoli, AR Pass, EA Harrington, JL Sloan, J Gagné… - Genetics in …, 2021 - Elsevier
Purpose To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative
capacity. Methods A modified 1-13 C-propionate breath test was administered to 57
methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16 healthy
volunteers. Isotopomer enrichment (13 CO 2/12 CO 2) was measured in exhaled breath after
an enteral bolus of sodium-1-13 C-propionate, and normalized for CO 2 production. 1-13 C-
propionate oxidation was then correlated with clinical, laboratory, and imaging parameters …
capacity. Methods A modified 1-13 C-propionate breath test was administered to 57
methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16 healthy
volunteers. Isotopomer enrichment (13 CO 2/12 CO 2) was measured in exhaled breath after
an enteral bolus of sodium-1-13 C-propionate, and normalized for CO 2 production. 1-13 C-
propionate oxidation was then correlated with clinical, laboratory, and imaging parameters …
