Table 5 Mutations identified in patients with ASS, ASL, CPS1 and NAGS deficiencies

1

ASS

c.256C > T / c.256C > T

p.Arg86Cys / p.Arg86Cys

Late

No

3

ASS

c.206 T > C / c.206 T > C

p.Val69Ala / p.Val69Ala

Neonatal

Yes

18

ASS

c.557 T > G / c.557 T > G*

p.Met186Arg / p.Met186Arg*

Neonatal

Yes

24

ASS

c.970G > A / c.970G > A

p.Gly324Ser / p.Gly324Ser

Late

No

41

ASS

c.971G > T / c.1168G > A

p.Gly324Val / p.Gly390Arg

Neonatal

Yes

46

ASS

c.1168G > A /c.1168G > A

p.Gly390Arg / p.Gly390Arg

Neonatal

Yes

66 [28]

ASS

c.350G > A / c.1168G > A

p.Gly117Asp / p.Gly390Arg

Late

Yes

84

ASS

c.970G > A / c.271A > G*

p.Gly324Ser / p.Thr91Ala*

A, NBS

No

85

ASS

c.256C > T / c.256C > T

p.Arg86Cys / p.Arg86Cys

A, NBS

No

86

ASS

c.256C > T / c.256C > T

p.Arg86Cys / p.Arg86Cys

Late

No

96^D

ASS

c.1168G > A /c.1168G > A

p.Gly390Arg / p.Gly390Arg

Neonatal

-

98 [28]

ASS

c.323G > T + c.356C > T / NF

p.Arg108Leu + p.Thr119Ile / NF

Neonatal

Yes

99

ASS

c.892delG / c.1168G > A

p.Glu298Argfs*/ p.Gly390Arg

Neonatal

Yes

101

ASS

c.919C > T / NF

p.Arg307Cys / NF

A, NBS

No

9

ASL

c.133 T > A* / c.947G > A*

p.Tyr45Asn* / p.Gly316Glu*

Late

Yes

29

ASL

c.623C > G / c.623C > G*

p.Pro208Arg / p.Pro208Arg*

Late

Yes

30

ASL

c.623C > G / c.623C > G

p.Pro208Arg / p.Pro208Arg

Late

Yes

39

ASL

c.338G > A / c.338G > A

p.Arg113Gln /p.Arg113Gln

A, Prenatal

Yes

47

ASL

c.532G > A /c.901G > A*

p.Val178Met / p.Gly301Arg*

Late

Yes

71

ASL

c.1143 + 1G > T / c.1143 + 1G > T

-

Neonatal

Yes

81

ASL

c.1135C > T/c.1367G > A*

p.Arg379Cys / p.Arg456Gln*

A, NBS

No

19

CPS1

c.2549G > T*/ NF

p.Arg850Leu* / NF

Late

Yes

93 [30]

NAGS

c.499A > G* / c.916-2A > G*

p.Met167Val */

Late

No