Table 2.

Clinical and biochemical parameters in seven GSD Ia patients with homozygosity for one G6PC mutation, who are followed in the GSD program, University of Florida

Case	E	F	G	H	I	J	K
G6PC mutation
cDNA	c.247C > T	c.79delC	c.379_380 dupTA	c.467G > T	c.79C > T	c.379_380 dupTA	c.323C > T
protein	p.R83C	p.Gln27Argfs*9	p.Y128Tfs	p.W156 L	p.Q27X	p.Y128Tfs	p.T108I
Descent	Caucasian	Caucasian	Hispanic	Caucasian	Indian	Hispanic	Lebanese
Gender	Female	Male	Female	Male	Female	Male	Female
Year of birth	1983	1994	2011	2002	2000	2007	1997
Age at clinical presentation (months)	5	2	0	91	0	0	12
Last measured height
(cm)	152.4	178.6	93.1	144.0	140.0	126.4	158.3
(SDS)	−1.7^	0.2	0.0	−0.6	−1.1	−1.0	−0.8
BMI
(kg/m2)	25.1	25.6	17.4	20.5	21.2	20.2	40.2
(SDS)	NR	NR	NR	NR	NR	NR	NR
Lactate (mmol/L)	4.1f,g,h,i,j,k (0.5–10.9)	1.9e,h,i,j (0.7–4.8)	1.6e (1.4–1.9)	1.2e,f,j (0.6–3.2)	1.3e,f (0.9–4.5)	1.5e,h (0.7–5.1)	1.6e,f (0.3–3.3)
Uric acid (mmol/L)	0.37k (0.21–0.58)	0.44i (0.32–0.55)	0.32k (0.24–0.39)	0.40k (0.29–0.50)	0.28f,k (0.21–0.37)	0.29k (0.25–0.58)	0.52e,g,h,i,j (0.42–0.65)
Triglycerides (mmol/L)	8.7 (0.8–17.7)	7.5 (4.8–9.3)	3.6 (1.8–8.2)	1.4 (0.6–2.1)	4.3 (1.2–15.2)	1.2 (0.8–13.0)	2.3 (1.0–5.6)
Cholesterol (mmol/L)	5.98 (4.7–8.6)	5.98 (2.9–7.7)	5.00 (3.9–5.4)	4.64 (3.2–5.7)	3.73 (3.0–5.8)	3.50 (2.8–6.6)	6.37 (4.8–9.1)
Liver adenoma(s)	Yes	Yes	No	No	No	Yes	Yes
Nephropathy	Yes	No	No	No	No	No	No
Bone disease
Osteopenia	No	NR	NR	NR	NR	NR	NR
Osteoporosis	LS, PF	NR	NR	NR	NR	NR	NR

Legend: Biochemical parameters are presented as median and range. Legend: ^e, significantly different compared to case E, 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