Fig. 1: The Bckdha−/− mouse recapitulates the MSUD phenotype in humans.
From: Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
a Kaplan–Meier curve (Bckdha−/− n = 15, Bckdha+/− n = 44, Bckdha+/+ n = 26); log-rank Mantel–Cox test (Bckdha−/− vs. Bckdha+/+ or Bckdha+/−, p values = 4.86 × 10−13 or 2.22 × 10−16, respectively). b Weight (1 week, Bckdha−/− n = 5, Bckdha+/− n = 7, Bckdha+/+ n = 4). c Leucine and alloisoleucine plasma concentrations (3 days, Bckdha−/− n = 3, Bckdha+/− n = 3, Bckdha+/+ n = 2). d Bckdha mRNA and e BCKDHA protein levels in the liver, heart, and brain (1 week, Bckdha−/− n = 3, Bckdha+/− n = 1, Bckdha+/+ n = 1). All data are shown as means ± SD. ****P < 0.0001. Source data are provided as a Source data file.
