Table 3 Clinical findings in patients with GSD type Ia, Ib, III, VI and IX

Gastrointestinal symptoms (n/N %)

Anorexia

64/315

24/128

22/69

9/54

3/22

6/42

20%

19%

32%

17%

14%

14%

Abdominal pain

52/315

14/128

21/69

7/54

4/22

6/42

17%

11%

30%

13%

18%

14%

Abdominal bloating

68/315

26/128

18/69

10/54

6/22

8/42

22%

20%

26%

19%

27%

19%

Nausea / vomiting

79/315

36/128

20/69

10/54

6/22

7/42

25%

28%

29%

19%

27%

17%

Diarrhea

97/315

48/128

29/69

10/54

2/22

8/42

31%

38%

42%

19%

9%

19%

Mucus / bloody stool

34/315

13/128

15/69

3/54

0/22

3/42

11%

10%

22%

6%

0%

7%

Any GI problems aforementioned

193/315

87/128

47/69

26/54

13/22

20/42

61%

68%

68%

48%

59%

48%

Typical GSD features (n/N %)

Hypoglycemia

184/315

87/128

38/69

31/54

12/22

16/42

58%

68%

55%

57%

55%

38%

Hyperlipidemia

49/315

33/128

11/69

2/54

1/22

2/42

16%

26%

16%

4%

5%

5%

Anemia

39/315

14/128

22/69

1/54

0/22

2/42

12%

11%

32%

2%

0%

5%

Enlarged kidney

27/315

17/128

9/69

1/54

0/22

0/42

9%

13%

13%

2%

0%

0%

Hepatomegaly

261/315

107/128

59/69

48/54

16/22

31/42

83%

84%

86%

89%

73%

74%

Acidosis

57/315

38/128

17/69

2/54

0/22

0/42

(lactic acidosis)

18%

30%

25%

4%

0%

0%

Fatigue and muscle weakness

63/315

13/128

14/69

28/54

1/22

7/42

20%

10%

20%

52%

5%

17%

Hyperuricemia

56/315

33/128

17/69

3/54

0/22

3/42

18%

26%

25%

6%

0%

7%

Infection symptoms (n/N%)

Perianal abscess

75/315

27/128

30/69

6/54

2/22

10/42

24%

21%

43%

11%

9%

24%

Oral ulcer

76/315

12/128

53/69

4/54

2/22

5/42

24%

9%

77%

7%

9%

12%

Respiratory tract infection

103/315

40/128

28/69

12/54

6/22

17/42

33%

31%

41%

22%

27%

40%

Otitis media

22/315

5/128

11/69

4/54

0/22

2/42

7%

4%

16%

7%

0%

5%

Urinary tract infection

19/315

11/128

4/69

4/54

0/22

0/42

6%

9%

6%

7%

0%

0%

Gastroenteritis

43/315

16/128

17/69

5/54

0/22

5/42

14%

13%

25%

9%

0%

12%

Skin infection

19/315

5/128

8/69

1/54

2/22

3/42

6%

4%

12%

2%

9%

7%

Any infection symptoms aforementioned

192/315

72/128

63/69

22/54

9/22

26/42

61%

56%

91%

41%

41%

62%