Table 2.

Study population by disease groups and main results of QUS study

	Proportion of patients investigated*	SOS (mean ± SD)	BUA (mean ± SD)	BQI (mean ± SD)	BQI Z-score (mean ± SD)
Inherited metabolic disorders
Organic acidemia	4/10 (40%)	1501.6 ± 14.2	64.9 ± 17.3	62.8 ± 17	− 1.8 ± 1.1
Urea cycle disorders	6/16 (37%)	1510.1 ± 16.2	60.6 ± 1	67.1 ± 1	− 1.6 ± 0.9
Hereditary carbohydrates defects	9/14 (64%)	1446.1 ± 15.5	66.6 ± 13.3	59.5 ± 14.7	− 2 ± 0.8
Hyperphenilalaninemia	6/22 (27%)	1507.3 ± 15.4	77.9 ± 15.1	72.2 ± 16	− 1.1 ± 0.7
Osteogenesis imperfecta	7/7 (100%)	1481.8 ± 13.5	48.1 ± 11.9	44.7 ± 15.4	− 2.6 ± 0.9
Phenylketonuria	44/47 (93%)	1504.2 ± 17.6	67.8 ± 15.5	65.8 ± 17.3	− 1.5 ± 0.9
Total	76/116 (65%)	1491.8 ± 15.4	63.2 ± 12.3	61 ± 13.5	− 1.7 ± 0.8
Kidney diseases
Chronic glomerulopathy	6/82 (7%)	1504.24 ± 11.7	69.97 ± 13.2	66.74 ± 13.3	− 1.49 ± 0.5
Idiopathic hypercalciuria	14/78 (18%)	1491.02 ± 13.2	55.18 ± 22.5	51.16 ± 13.7	− 2.18 ± 0.7
Chronic renal insufficiency	12/61 (20%)	1502.83 ± 15.8	64 ± 10.8	63.28 ± 13.9	− 1.9 ± 1
Hereditary rickets	6/7 (86%)	1511.19 ± 9	74.29 ± 14.2	73.52 ± 10.4	− 1.02 ± 1
Nephrotic syndrome	15/69 (22%)	1495.97 ± 16.5	55.74 ± 11.8	56.22 ± 13.1	− 1.96 ± 0.5
Inherited tubulopathies	19/31 (61%)	1495.90 ± 13.4	56.76 ± 17.3	55.32 ± 14.4	− 1.94 ± 0.6
Total	72/328 (22%)	1500.19 ± 7.3	62.65 ± 8.1	61.04 ± 8.3	− 1.63 ± 0.5
Endocrine disorders
Insulin dependent diabetes mellitus	5/42 (12%)	1503.77 ± 20.2	69.49 ± 18.6	66.21 ± 21.6	− 1.57 ± 0.9
Obesity (	8/167 (5%)	1507.03 ± 23.5	61.15 ± 17.3	65.13 ± 16.5	− 1.27 ± 1.1
Turner syndrome	7/17 (41%)	1501.06 ± 8.7	65.74 ± 13.9	62.71 ± 9.6	− 2.01 ± 0.8
Total	20/226 (9%)	1503.95 ± 2.9	65.46 ± 4.1	64.68 ± 1.8	− 1.61 ± 0.4

^*Number of patients investigated/total number of patients in charge with that diagnosis