Table 1.
Clinical and biochemical parameters in four GSD Ia patients with homozygosity for one G6PC mutation, who are followed in the UMCG
| Case | A | B | C | D |
|---|---|---|---|---|
| G6PC mutation | ||||
| cDNA | c.79delC | c.247C > T | c.467G > T | c.1039 C > T |
| protein | p.Gln27Argfs*9 | p.Arg83Cys | p.Trp156Leu | p.Gln347X |
| Descent | Caucasian | Turkish | Caucasian | Caucasian |
| Gender | Female | Female | Male | Female |
| Year of birth | 1994 | 1994 | 1992 | 2003 |
| Age at clinical presentation (months) | 0 | 2 | 0 | 22 |
| Largest height | ||||
| (cm) | 150 | 172 | 176 | 151 |
| (SDS) | −3.3^ | +0.3 | −1.2 | −0.4 |
| BMI | ||||
| (kg/m2) | 26.6 | 27.7 | 19.7 | 17.2 |
| (SDS) | +1.6 | +2.0 | −0.9 | −0.1 |
| Lactate (mmol/L) | 5.8c,d (2.3–10.6) | 4.3c,d (0.9–18.6) | 2.7a,b (0.8–5.5) | 1.4a,b (1.0–1.4) |
| Uric acid (mmol/L) | 0.28 (0.12–0.46) | 0.29 (0.16–0.58) | 0.26 (0.16–0.38) | 0.28 (0.25–0.33) |
| Triglycerides (mmol/L) | 12.5 (0.2–24.4) | 6.1 (0.6–14.1) | 4.2 (2.1–8.6) | 2.2 (1.1–4.1) |
| Cholesterol (mmol/L) | 10.3 (6.8–14.5) | 5.0 (3.2–6.3) | 5.9 (3.3–7.6) | 3.6 (2.5–5.1) |
| Liver adenoma(s) | Yes | Yes | No | No |
| Nephropathy | No | No | No | No |
| Bone disease | ||||
| Osteoporosis | LS | LS,PF,R | LS | No |
| Osteopenia | No | No | No | LS, PF, R |
Legend: Biochemical parameters are presented as median and range. Patient C corresponds with patient III.7 in Table 3. a, significantly different compared to case A, b, significantly different to case B, etc.; ^, height outside of target range; LS, lumbar spine; NR, not recorded; PF, proximal femur; R, radius. Differences were considered statistically significant at p < 0.05