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

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

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
P4^a	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

P plasma, U urine, n.d. not detectable, n.a. not available
^aCr dose stable at 100 mg/kg/day overtime
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)

ISSN: 1750-1172