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Table 1 The table summarizes relevant clinical features and molecular findings in 111 patients with HHH syndrome

From: The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Pt Sex Ethnicity Onset years Diagnosis years Vital status (last age reported) Lethargy Coma ASAT ALAT Coagulopathy Intellectual disability Seizures, myoclonic Pyramidal signs Plasma ornithine at diagnosis Mutation effect at protein level Ref.
1 m English/French Canadian 1,1 1,5 43,0 Yes No Yes No 1 Yes Yes 915 p.A264P/p.F188del [2-4]
2 f English 2,5 21,0 23,0 Yes Yes No No 3 Yes Yes 1021   [5,6]
3 m French Canadian 0,8 7,0 9,0 Yes Yes Yes Yes 3 Yes Yes 372   [7-12]
4 m French Canadian 1,9 2,0 5,0 Yes Yes    3 Yes Yes 330   [7,9,11]
5 f French Canadian   47 17,0 Yes No    1 No No 380   [7,11]
6 m French Canadian   31,0* 31,0 No No    3 Yes   519   [7]
7 f French Canadian   22,0* 22,0 yes No    No No No 430   [7]
8 m French Canadian   18,0* 19,0 No No   Yes+ 3 No No 483   [7]
9 f NA   4,0 6,5 No No Yes No No No No 410   [13]
10 f Italian 0,2 0,8 1,0 Yes   No No 1 Yes Yes 689   [14]
11 m NA 1,4 2,5 4,7 Yes No No   3 Yes No 229   [9]
12 m Italian 1,1 2,5 Death 2,5 Yes Yes Yes+ Yes+    Yes 797   [15]
13 m Italian 0,8 2,6 3,6 Yes   No No No   Yes 1041   [15]
14 m Japanese   42,0 46,0 Yes Yes No      700   [16]
15 m NA   5,5 8,0 No No No No 3 Yes Yes 586   [17]
16 m NA         No    1014   [18]
17 m NA   4,2 10,7      1      [18]
18 m Norwegian/Yugosl-Italian 0,4 1,1 4,0 No No Yes+ Yes No No No 887   [19]
19 f Italian Birth 0,2 20,0 Yes Yes Yes Yes No No Yes 618 p.G27R/p.G27R [20-23]
20 m Japanese   13,0* 13,0 No No No No 1 Yes Yes 409   [24]
21 m Japanese 4,0 19,0 19,0 Yes No No No 3 Yes Yes 477   [24]
22 m Spanish 9,0 21,0 21,0   No No   3 No Yes 719   [25]
23 f Spanish   18,0 18,0   No No   3 No Yes 780   [25]
24 m Spanish 4,0 10,0 13,0 Yes Yes No NA 3   Yes 713   [25]
25 m Italian Birth 2,0 21,0 Yes Yes Yes No 3 Yes Yes   p.Ser90*/p.Ser90* [21-23]
26 m Japanese 3,0 10,0 10,0 Yes No No No 3 No Yes 419 p.R179*/p.R179* [26,27]
27 f Japanese    37,0         504   [28]
28 m Japanese    11,0         879   [28]
29 m Japanese    19,0         553   [28]
30 f    20,0 24,0       Yes Yes 860   [29]
31 m Japanese   17,0 17,0 Yes No    3 Yes Yes 834 p.229_230insN/ p.229_230insN [30,31]
32 m    37,0 39,0 Yes Yes Yes Yes No No Yes 310   [32]
33 f    40,0* 42,0 Yes No    No    263   [32]
34 m Japanese   35,0 41,0 Yes Yes No   1 No Yes 586 p.R179*/p.R179* [31,33]
35 m Japanese   15,0 16,0   No No   3 No Yes   p.G27E/p.G27E [31,34]
36 m French Canadian Birth Birth Death Birth Yes Yes Yes      1915   [35]
37 m French Canadian   1,2 21,0 No No Yes Yes 1 No Yes 727 p.F188del/p.F188del [36-38]
38 f French Canadian   5,3 22,0 No No Yes Yes 1 No Yes 343 p.F188del [36-38]
39 f French Canadian   1,3 25,0 No No Yes Yes 1 No Yes 1083 p.F188del/p.F188del [36-38]
40 m French Canadian   12,0 33,0 No No No No 3 No Yes 515 p.F188del/p.F188del [36-38]
41 m French Canadian   3,5 35,0 No No Yes+ No 3 No Yes 606 p.F188del/p.F188del [36-38]
42 m French Canadian   8,0 40,0 Yes Yes Yes Yes+ 3 Yes Yes 700 p.F188del/p.F188del [36-39]
43 f French Canadian 3,5 5,5 6,5 No No Yes Yes 1 No Yes 470   [40]
44   NA 0,6 0,6       3    577   [41]
45 m Italian Birth Birth 10,0 Yes Yes No No No Yes Yes 595 p.G27R/p.Tyr55 [22,23,42]
46   Japanese/ Irish             p.E180K/large del [37]
47   Palestinian Birth Birth   Yes Yes        p.A15E/p.A15E [38,43]
48 f South American             p.M33QfsX1/p.M33QfsX1 [38,43]
49 m Italian 12,0 26,0 28,0 Yes No No Yes 1 Yes Yes   p.R179*/p.R179* [22,23]
50 m Italian 18,0 21,0 29,0 Yes Yes Yes+ No 1 Yes Yes 505 (IVS5 + 1 g > a/IVS5 + 1 g > a) exon skipping [22,23]
51 f Italian 3,0 7,0 24,0 Yes Yes No No 2 Yes Yes 780 p.R275Q/p.R275Q [22,23,44]
52 f Italian 1,0 33,0 44,0      3   Yes   p.Q89*/p.Q89* [22,23]
53 m Italian Birth Birth 23,0 Yes Yes    No Yes Yes   p.F188del/p.G190D [22,23]
54 f NA 5,0 17,0 32,5   No No No 3 No Yes 312   [45]
55 m NA 13,0 15,0 15,0   No No   3 No   520   [45]
56 f NA   0,8 0,8   No No No 1 No No    [46]
57 f Japanese   52,0 52,0 No No No No No Yes Yes 373 p.R179*/p.R179* [27,47]
58 m Slovakian   1,6 10,0 No No Yes+   No No   425 p.G113C [48]
59 m Japanese 1,5 15,0 15,0   No No No 3 No Yes 682 p.P126R/p.P126R [49]
60 m Palestinian   1,8 1,8   No Yes No 3 Yes No 532 p.L193*/p.L193* [50]
61 m Palestinian   13,0* 13,0   No No No 3 Yes No 314 p.L193*/p.L193* [50]
62 f Japanese 2,0 30,0 30,0   No    2 Yes Yes 373 p.R275*/p.R275* [51]
63 m Japanese 3,0 34,0 Death 34,0 Yes Yes    3 Yes Yes   p.R275*/p.R275* [51]
64 m Italian 3,5 3,5 3,5 Yes No Yes+ Yes+ No No No 852 p.G113C/p.M273K [52]
65 m Mexican   5,0* 9,0   No Yes+ Yes No No No 697 p.T32R/p.T32R [53]
66 f Mexican   13,0 18,0   No    No No No 353 p.T32R/p.T32R [53]
67 m Mexican   8,0 Death 21,0 Yes Yes    3 No Yes 386 p.T32R/p.T32R [53]
68 m Mexican   7,0* 20,0   No    No No No 371 p.T32R/p.T32R [53]
69 m Mexican   3,0* 15,0   No    No No No 370 p.T32R/p.T32R [53]
70 m NA Birth 0,1 3,0   Yes    3    616   [54]
71 f French-Canadian 1,0 1,1 1,1 Yes No Yes+ Yes+ No No No 933 p.F188del/p.F188del [55]
72 f French-Canadian 1,2 1,2 1,2 No No Yes+ Yes+ No No No 580 p.F188del/p.F188del [55]
73 f Saudi arabia 1,0 1,5 4,0 No No Yes+ Yes+ 3 No Yes 465 p.G220R/p.G220R [56]
74   Saudi arabia   13,0* 13,0 No No    1 No Yes 590 p.G220R/p.G220R [56]
75   Saudi arabia   7.0* 7,0 No No    1 No Yes 493 p.G220R/p.G220R [56]
76   French Canadian   1,0 14,0 No No Yes+ Yes+   No Yes 642 p.F188del/p.F188del [38]
77   French Canadian   3,6 13,0 No No Yes+ Yes   No Yes 432 p.F188del/p.F188del [38]
78   French Canadian   2,4 9,0 No No Yes+ Yes+   No Yes 310 p.F188del/p.F188del [38]
79   French Canadian   0,2** 7,0 No No No No   No Yes 397 p.F188del/p.F188del [38]
80   French Canadian   2,0 6,0 No No Yes No   No Yes 337 p.F188del/p.F188del [38]
81   French Canadian   15,0 29,0 Yes Yes No Yes   Yes Yes 431 p.F188del/p.F188del [38]
82   French Canadian   16,0 Death 23,0 Yes Yes Yes    No Yes 227 p.F188del/p.F188del [38]
83   French Canadian   2,0 31,0 No No     No Yes 581 p.F188del/p.F188del [38]
84   French Canadian   3,0 17,0 No No     No Yes 529 p.F188del/p.F188del [38]
85   French Canadian   1,5 5,0 No No Yes    No Yes 348 p.F188del/p.F188del [38]
86 m Belgium 0,3 0,7 6,0 No No Yes Yes 1 No No 951 p.M37R/p.M37R [57]
87 f Italian Birth 0,2 Death 0,2   Yes No No No No No   p.L71Q/p.L71Q [57]
88 m Algerian   2,0 5,0   No No No 3 No Yes 885 p.K245*/p.K245* [57]
89 m Algerian Birth Birth* 3,0   No No No 3 No Yes 887 p.K245*/p.K245* [57]
90 f Senegal Birth Birth 6,0 Yes Yes No Yes+ 1 Yes Yes 509 p.R179*/p.R179* [57]
91 f Senegal Birth Birth 6,0 Yes No No No 1 No Yes 290 p.R179*/p.R179* [57]
92 m Spanish   2,0 2,0      3    419 p.G216S/p.G216S [57]
93 f Taiwan 1,1 2,0 2,0 Yes Yes Yes+ Yes+     450 p.T272I/p.T272I [57]
94 m Italian   41,0 41,0 Yes Yes No Yes No No Yes 216 p.G27R/p.G27R [57]
95 m Italian 24,0 54,0 54,0 Yes No Yes+ Yes No No Yes 603 (c.56 + 1G > T/intronic change) exon skipping [57]
96 f USA-Greece Birth Birth 0,1 Yes Yes No Yes No    370 p.S175fsX192/p.L283F [57]
97 m Morocco   1,2 1,5   Yes Yes+ Yes+ 1 No Yes 700 p.A70L/p.A70L [57]
98 f Pakistan   1,0 5,0 No No Yes No 3 No No 471 p.F188L/p.F188L [57]
99 m Morocco 1,7 1,7 2,0 Yes No Yes+ Yes No No No 493 p.R179*/p.R179* [57]
100 m Morocco   4,0* 4,0          p.R179*/p.R179* [57]
101 f Pakistan 20,0 57,0 57,0 Yes Yes No No No Yes Yes   p.A70L/p.A70L [57]
102 m Indian 35,0 35,0 35,0 Yes   No No No   No 292 p.G220R/p.R275* [58]
103 f French Canadian 2,0 15,0 57,0 Yes Yes Yes    Yes Yes 542 p.F188del/p.A264P [4]
104 f El Salvador 4,4 4,5 Death 31,0 Yes No Yes+ Yes 2 Yes Yes 521 p.M33Qfs*1/M33Qfs*1 [4]
105 f Vietnam 1,0 5,0 29,0 Yes Yes Yes Yes 2 Yes Yes 1439 p.R179*/p.R179* [4]
106 m Italian 6,0 36,0 36,0 Yes       Yes 309 p.F188del/p.L193P [59]
107 m Turkish 3,5 6,0 9,0 Yes No No No   No   380 p.A15V/p.A15V [60]
108 m Han Chinese 1,0 2,0 6,0 No No Yes Yes No No No 503 p.R179*/p.T272I [61]
109 m Han Chinese   Birth* 3,0 No No No No No No No   p.R179*/p.T272I [61]
110 f Italian 1,0 8,0 8,0 No No Yes No 1 No Yes 427 p.G27R/p.R275G Unp.
111 f Italian 1,0 4,0* 4,0 No No No No No No Yes 531 p.G27R/p.R275G Unp.
  1. Yes + means severe abnormality; age at diagnosis includes *prospective diagnosis and **newborn screening; intellectual disability (score: 1, mild; 2, moderate; 3, severe); Unp. means unpublished; means increased.