Skip to main content

Table 1 Plasma, urine and brain concentrations of Cr and GAA in AGAT-d patients at diagnosis and after different treatment

From: Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

Cr dose (mg/kg/day)    T0 T1 T2
  GAA μM Cr μM Cr mM PCr/PDE Cr μM Cr mM PCr/PDE Cr μM Cr mM PCr/PDE
  P U P U Brain P U Brain P U Brain
P1 n.d. 2.45 5.23 146 1.10 0.73 28.33 9,784 3.77 1.11 51.9 6,445 3.9 1.40
P2 n.d. 2.16 5.41 133 1.05 0.76 38.67 37,489 3.86 1.15 26.2 9,459 3.2 1.35
P3 0.10 1.34 4.59 138 1.33 0.76 136.0 44,736 3.56 0.86 31.5 756 3.5 0.87
P4a 0.13 0.54 16.22 25 0.15 n.a. 51.2 13,886 4.30 0.96 45.3 5,843 4.0 1.07
range: 0.22–3.14 56–698 18–141 200–5500 4.37+ 0.44 1.40+ 0.14         
  1. P plasma, U urine, n.d. not detectable, n.a. not available
  2. aCr dose stable at 100 mg/kg/day overtime
  3. Data were recorded at T0 (diagnosis), T1 (after 5 years of Cr 200, 300, 100 mg/Kg/day for P1-P2, P3 and P4, respectively) and at T2 (last observation at 100 mg/Kg/day for all patients)