TABLE 1.
General characteristics of the hepatic GSD patients from the three CGM subsets
| Subset | Patient | Age (y) a | Sex | GSD type | Gene | Mutation 1 | Mutation 2 |
|---|---|---|---|---|---|---|---|
| I | P‐I‐1 | 9 | M | Ia | G6PC | c.888G>T | c.888G>T |
| II | P‐II‐1 | 22 | F | Ia | G6PC | c.79delC | c.79delC |
| II | P‐II‐2 | 8 | M | IIIa | AGL | c.3911del | c.3911del |
| II | P‐II‐3 | 7 | M | IIIa | AGL | c.3911del | c.3911del |
| II | P‐II‐4 | 2 | M | IXα | PHKA2 | c.3614C>T | ‐ |
| II | P‐II‐5 | 12 | M | IXα | PHKA2 | c.3614C>T | ‐ |
| II | P‐II‐6 | 13 | M | IXα | PHKA2 | c.601C>T | ‐ |
| II | P‐II‐7 | 12 | F | IIIa | AGL | c.1020del | c.1020del |
| II | P‐II‐8 | 15 | F | Ia | G6PC | c.79delC | c.209G>A |
| II | P‐II‐9 | 2 | M | IX | ‐ | Unknown b | Unknown b |
| II | P‐II‐10 | 6 | M | IX | ‐ | Unknown b | Unknown b |
| II | P‐II‐11 | 10 | M | IIIa | AGL | c.1222C>T | c.2120_2121delAA |
| III | P‐III‐1 | 6 | M | Ib | SLC37A4 | c.1042_1043delCT | c.1042_1043delCT |
| III | P‐III‐2 | 2 | F | Ib | SLC37A4 | c.1042_1043delCT | c.899G>A |
| III | P‐III‐3 | 11 | M | Ib | SLC37A4 | c.365G>A | c.365G>A |
Abbreviations: AGL, amylo‐1,6‐glucosidase, 4‐alpha glucanotransferase; CI, clinical intervention; EMPA, empagliflozin; G6PC, glucose‐6‐phosphatase catalytic subunit; GSD, glycogen storage disease; P, patient; PHKA2, Phosphorylase Kinase Regulatory Subunit Alpha 2; SLC37A4, Solute Carrier Family 37 Member 4; y, years.
a
Age at start of study.
b
Diagnosis based on deficient phosphorylase kinase activity.