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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.