Table 1 Clinical, biochemical and genetic data of patients with GSD type VI and IX.

From: Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX

Patient No/Gender/ Gene

Genetic variants

Age at diagnosis/Follow-up period (years)

Initial Symptoms

Weight;Height-SDS (diagnosis/last visit)

Liver Bx

Liver Ultrasound (diagnosis/last visit)

ALT at diagnosis/at last visit (NR: ( < 45IU/L)

TG at diagnosis/at last visit (NR: <150 mg/dl)

Biotinidase at diagnosis/at last visit (NR:4.4–12 nmol/dk/mL)

Treatment UCS (g/kg/d) (at diagnosis-last visit) Protein(g /kg/day %TC) MCT(+/-)

GSD type VI

P1/M/ PYGL

c.1131C>G

(p.Asn377Lys)

13 mo / 9 y

HM, H

−1.36/−1.1;

−1.87/−0.01

S - GSD

HM/HM

80/74

320/131

8.3/5.7

1–1;

1.5–2.5;

(+)

P2/M/ PYGL

c.1131C>G

(p.Asn377Lys)

18mo/14 y

HM

−1.6 / 0.05;

−2.2 / −2.0

S – GSD,

F

HM, IE/HM

273/216

230/167

8.9/7.4

2–2;

1.2–2.5;

(+)

P3/F/ PYGL

c.1806G>C (p.Arg602Ser)

9.5 y/ 18 y

HM

−1.6/−1.8;

−2.2/−1.8

S - GSD

HM, SM/HM

55/10

68/86

7.9/5.6

1–0.6;

0.95−2.0;

(−)

P4/M/ PYGL

c.1131C>G (p.Asn377Lys)

26 mo/ 11.6 y

HM

−0.03/0.12

0.04/0.4

S – GSD,

F

HM/HM, IE

685/67

222/115

6.8/8.7

1–1;

1.1−2.2;

(+)

P5/M/ PYGL

c.1131C>G

(p.Asn377Lys)

2.5 y/ 3 y

HM

0.58/ 0.40;

−1.9/−1.05

No

HM/

39/40

317/175

8.2 / 7.1

1–0.5/

1.2−2.015/+

P6/F/ PYGL

c.1164G>A

(p.Trp388*)

20 mo/ 6.5 y

HM

−0.9/ + 0.31

−2.8/ + 0.02

No

HM/

141/42

851/252

8.4/8.6

1–0.7;

0.95−2.0;

(+)

GSD Type IX

P7/M/PHKA2

c.1324G>A (p.Val442Ile)

25mo/10 y

HM,H

−2.27/−1.97

−2.24/−0.95

No

HM/HM, IE

70/39

301/98

8.6/6.7

2-Stop;

1.2–2.2;

(+)

P8/M/PHKA2

c.321C>A (p.Trp1067*)

18mo/6.8 y

HM,H

−1.47/−0.51;

−2.47/−0.81

S - GSD

HM/ Normal

79/18

166/62

9.2/7.8

3.5−0.7;

1.2–2.4;

(−)

P9/M/ PHKA2

c.1324G>A (p.Val442Ile)

27mo / 12 y

HM

1/−0.9;

−2.5/−2

S - GSD

HM/ HM,IE

97/46

316/122

7.7/7.2

2-Stop;

1.2–2.1;

(+)

P10/F/ PHKB

c.594+4T>G

28mo/11 y

H

0.7/ 1.2;

1.2/ 1.2

S - GSD

HM, IE/Normal

18/171

82/48

7.1/7.5

2.3-2;

1.2–2.3

(−)

P11/M/PHKB

c.1969C>T

(p.Gln657*)

38mo / 16.5 y

HM

−0.5/−0.5;

−2.61/−0.62

S- GSD

HM, IE/ HM, IE

308/25

89/106

7.8/7.2

2–1.5;

1.0–2.3;

(−)

P12/F/PHKB

c.1564C>T (p.Gln522*)

46mo / 8.5 y

HM

−0.28/1.42;

0.01/1.27

S- GSD, F

HM/HM, IE

104/71

280/105

7.2/12.2

2–1;

1.2–2.1;

(−)

P13/M/PHKB

c.1969C>T

(p.Gln657*)

60mo/9.1 y

HM

−0.5/−0.87;

−0.93/−0.71

No

HM, IE/Normal

100/33

153/206

8.5/6.9

0.5–0.5;

1.0–2.2;

(−)

P14/M/PHKB

c.305+1G>A

14mo / 5.4 y

HM

1.1/0.74;

−1.53/0.32

S GSD

HM, HM

121/45

143/102

8.5/8.7

2-Stop;

1.2–2.4;

(−)

P15/M/ PHKB

c.1969C>T

(p.Gln657*)

12mo/ 8.3 y

HM,H

1.97/ 1.35;

0.95/1.8

No

Normal/Normal

908/22

149/37

9.1/7.9

05-Stop;

1.2–2.5;

(−)

P16/M/

PHKG2

c.112G>A (p.Val38Ile)

78mo/ 19 y

HM

0.5/152;

−2.8/−2.7

S GSD, F

HM, IE/ HM, IE

72/30

230/80

6.9/6.42

No;

1.2–2;

(−)

  1. The Genetic variants written as Bold have not been reported before.
  2. P patient, M male, F female, HM hepatomegaly, H Hypoglycemia, IE increased echogenicity, ALT alanine transaminase, AST aspartate transaminase, mo months, y years, TG triglycerides, UCS Uncooked cornstarch, MCT Medium-chain triglyceride, Bx biopsy, S GSD suggestive of GSD, F Fibrosis.
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