Table 2 Liver NAGS enzyme activity in NAGS deficiency cases and carriers

Cases

[3]

Neonatal

0%

Not reported

[68] (Pt 7)

Neonatal

15% (not given in U^c)

Not stimulated

[68] (Pt 8)

Neonatal

10% (not given in U)

Not stimulated

[68] (Pt 9)

Neonatal

34% (not given in U)

Stimulated

[25]

Neonatal

0%

2% 0.44 nmol/min/g protein (Refs. [22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52])

[69] (Fam 1)

Neonatal

10U = 29%

20U = 14%

√

[70] (Proband)

Neonatal

141U = 100%

74U = 51%

√

[35] (Pt TD)

Neonatal

78U = 100%

104U = 72%

[35] (Pt YD)

Neonatal

98U = 100%

64U = 44%

√

[26]

Neonatal

 < 10% not calculable

Not stimulated

[27] (Fam 1)

Neonatal

6U = 18%

14U = 10%

√

[27] (Fam 3)

Neonatal

14U = 41%

9U = 6%

[27] (Fam 6)

Neonatal

0U = 0%

72U = 50%

√

[36]

Neonatal

2.1 nmol/min/g protein (Ref. not given)

4% 2.5 nmol/min/g protein (control:62.8)

[28] (Case 1)

5 weeks

0% not detectable

Not reported

[38]

5 months

Not reported

55U = 38%

[15] (Patient IV-5)

13 months

Not reported

47.9U = 33%

[14]

3 years

94U = 100%

197U = 100%

√

[12]

4 years

9U = 26%

Stimulated (below ref.)

[22]

4 years

27% 110 nmol/min/g protein (control: 1160 ± 750)

Not reported

[11]

12 years

22U = 65%

22U = 15%

√

[20]

12 years

30U = 88%

46U = 32%

[16]

20 years

14.3U = 42%

21.4U = 15%

√

[18] (No 11)

40 years

5% (not given in U)

4% (not given in U)

√

[18] (No 18)

Late

50% (not given in U)

75% (not given in U)

√

Carriers

[35] (Pt AD)

N/A

12U = 35%

62U = 43%

√

[71] (Pt 2)

N/A

12U = 35%

12U = 8%

√

[71] (Pt 3)

N/A

8U = 24%

32U = 22%

√