Table 3 First-degree relatives' genetic analysis and response of plasma glucose and lactate to fasting and oGTT
From: A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
Basal* | 30 min | 60 min | 120 min | Genetic | ||
|---|---|---|---|---|---|---|
Mother | Glycemia | 4,88 | 7,82 | 9,43 | 7,99 | Heterozygote for c.736 C >T (R246X) |
(31 years) | Lactate | 0,44 | 0,75 | 1,15 | 1,06 | |
Ketonemia | 0,8 | |||||
Father | Glycemia | 4,71 | 7,15 | 5,88 | 4,21 | Heterozygote for 966_967 delGAinsC |
(33 years) | Lactate | 0,65 | 1,64 | 0,93 | 1,95 | |
Ketonemia | 1,2 |