Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Table 2 Primary and secondary outcomes of the clinical study

	Patient 1		Patient 2		Patient 3		Patient 4
	Baseline	After treatment	Baseline	After treatment	Baseline	After treatment	Baseline	After treatment
CUMPCD ¹³CO₂ at 360 min (%)^a	2.5	2.6	2.8	2.8	2.9	2.6	3.0	2.7
GALT activity (μmol/h/mmol Hb)	6.7 (1.2%)	6.1 (1.1%)	11.3 (2.0%)	16.0 (2.8%)	8.8 (1.5%)	5.7 (1.0%)	6.9 (1.2%)	6.9 (1.2%)
Galactitol in urine (μmol/mmol creatinine)	115	123	132	123	114	106	93	87
Galactose in urine (μmol/mmol creatinine)	6	11	5	6	8	5	24	7
Dietary arginine intake (g/day)	6	6	4	3	4	4	3	4
Compliance to Asparten ® (%)	100		93		92		98
Days of treatment	28		28		35		35

Supplementation of arginine aspartate (Asparten®) was evaluated by whole body galactose oxidative capacity (primary outcome), erythrocyte GALT activity, as well as urinary galactose and galactitol levels (secondary outcomes). Baseline evaluation was done immediately before the initiation of Asparten® supplementation, after treatment evaluation was done immediately after suspension of Asparten® supplementation
^a CUMPCD (cumulative percent of the dose) ¹³CO₂ eliminated in air at 360 min

ISSN: 1750-1172