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 | f | English | 2,5 | 21,0 | 23,0 | Yes | Yes | No | No | 3 | Yes | Yes | 1021 | ||
3 | m | French Canadian | 0,8 | 7,0 | 9,0 | Yes | Yes | Yes | Yes | 3 | Yes | Yes | 372 | ||
4 | m | French Canadian | 1,9 | 2,0 | 5,0 | Yes | Yes | 3 | Yes | Yes | 330 | ||||
5 | f | French Canadian | 47 | 17,0 | Yes | No | 1 | No | No | 380 | |||||
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 | 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* | ||
26 | m | Japanese | 3,0 | 10,0 | 10,0 | Yes | No | No | No | 3 | No | Yes | 419 | p.R179*/p.R179* | |
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 | ||||
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* | |||
35 | m | Japanese | 15,0 | 16,0 | No | No | 3 | No | Yes | p.G27E/p.G27E | |||||
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 | ||
38 | f | French Canadian | 5,3 | 22,0 | No | No | Yes | Yes | 1 | No | Yes | 343 | p.F188del | ||
39 | f | French Canadian | 1,3 | 25,0 | No | No | Yes | Yes | 1 | No | Yes | 1083 | p.F188del/p.F188del | ||
40 | m | French Canadian | 12,0 | 33,0 | No | No | No | No | 3 | No | Yes | 515 | p.F188del/p.F188del | ||
41 | m | French Canadian | 3,5 | 35,0 | No | No | Yes+ | No | 3 | No | Yes | 606 | p.F188del/p.F188del | ||
42 | m | French Canadian | 8,0 | 40,0 | Yes | Yes | Yes | Yes+ | 3 | Yes | Yes | 700 | p.F188del/p.F188del | ||
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 | |
46 | Japanese/ Irish | p.E180K/large del | [37] | ||||||||||||
47 | Palestinian | Birth | Birth | Yes | Yes | p.A15E/p.A15E | |||||||||
48 | f | South American | p.M33QfsX1/p.M33QfsX1 | ||||||||||||
49 | m | Italian | 12,0 | 26,0 | 28,0 | Yes | No | No | Yes | 1 | Yes | Yes | p.R179*/p.R179* | ||
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 | |
51 | f | Italian | 3,0 | 7,0 | 24,0 | Yes | Yes | No | No | 2 | Yes | Yes | 780 | p.R275Q/p.R275Q | |
52 | f | Italian | 1,0 | 33,0 | 44,0 | 3 | Yes | p.Q89*/p.Q89* | |||||||
53 | m | Italian | Birth | Birth | 23,0 | Yes | Yes | No | Yes | Yes | p.F188del/p.G190D | ||||
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* | ||
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. |