Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

Table 1

Clinical features, biochemical and the G6PC mutations in GSD1a Malaysian patients.

Pt No

Sex/Ethnicity

Age onset

Age of dx

Initial clinical manifestation

Lactate, mmol/L (ref <2)

Triglyceride, mmol/L (ref <1.7)

Uric acid, µmol/L (ref <400)

ALT/AST, IU/L (ref <42/<51)

Nucleotide changes

Protein changes

Exon

Mutation reported

1#

F/Chinese

7m

9m

Hepatomegaly, hypoglycaemia

5.5

11

687

129/148

c.248 G > A; c.1022 T > A

p.Arg83His; p.Ile341Asn

2; 5

Hwu (1995); Lee (1996)

2#

M/Malay

3y 8 m

3y 8 m

Hepatomegaly

2.6

9.1

569

309/275

c.648 G > T; c.706 T > A

p.Leu216 =; p.Trp236Arg

5; 5

Kajihara [18]; Lei [19]

3

M/Chinese

8m

2y 2m

Hepatomegaly, poor weight gain, epistaxis

4.2

24.6

560

351/357

c.262delG; c.648 G > T

p.Val88Phefs14; p.Leu216 =

2; 5

Lam (1998); Kajihara [18]

4

F/Chinese

ND

6y

Hepatomegaly, short stature, poor weight gain

ND

ND

ND

ND

c.209 G > A; c.248 G > A

p.Trp70; p.Arg83His

1; 2

Trioche (1999); Hwu (1995)

5

M/Malay

12m

12m

Hepatomegaly, hypoglycaemia

ND

ND

500

ND

c.155 A > T; c.325 T > C

p.His52Leu; p.Cys109Arg

1; 2

Rahman [20]; This study

6#

F/Malay

12m

13m

Hepatomegaly

13.4

11.4

405

89/158

c.226 A > T; c.648 G > T

p.Lys76; p.Leu216 =

1; 5

Rahman [20]; Kajihara [18]

7

M/Chinese

10m

12m

Hepatomegaly, hypoglycaemia

ND

ND

ND

ND

c.248 G > A; c.648 G > T

p.Arg83His; p.Leu216 =

1; 5

Hwu (1995); Kajihara [18]

8#

M/Malay

6m

9m

Hepatomegaly, hypoglycaemia, poor weight gain

5.5

13

451

229/335

Homo c.648 G > T

p.(Leu216 = )

5

Kajihara [18]

9#

M/Chinese

15m

2y 10m

Hepatomegaly

4.2

7.1

269

181/149

c.248 G > A; c.648 G > T

p.(Arg83His) p.(Leu216 = )

2; 5

Hwu (1995); Kajihara [18]

10#

M/Malay

9m

9m

Hepatomegaly, splenomegaly, motor delay

3.3

6.6

228

156/275

Homo c.648 G > T

p.(Leu216 = )

5

Kajihara [18]

11

M/Malay

ND

4y

Hepatomegaly, hypoglycaemia

ND

ND

ND

ND

Homo c.648 G > T

p.(Leu216 = )

5

Kajihara [18]

12

F/Malay

5m

10m

hepatomegaly

8

11.2

ND

39/87

c.325 T > C; c.648 G > T

p.(Cys109Arg); p.(Leu216 = )

2; 5

This study; Kajihara [18]

13

M/Malay

13y

16y

Short stature, gouty arthritis

1.8

5.7

866

29/ND

c.648 G > T; c.706 T > A

p.Leu216 =; p.Trp236Arg

5; 5

Kajihara [18]; Lei [19]

Abbreviations. ALT, alanine transaminase; AST, aspartate transaminase; Dx, diagnosis; F female; M, male; m, months; ND, not determined; Pt, patient; y, years; siblings, #Inherited from parents.