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.Val88Phefs∗14 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.