Table 2.
Detailed characteristics of adult patients with GSD types III/VI/IX included in the study (n = 16).
| Patient’s Number and Gender | Age at Diagnosis/ Current Age (m—Months, y—Years)) |
Diet | Laboratory Results at 18 y | Complications and Other Issues | Metabolic Homeostasis at Present | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| BMI (kg/m2) |
ALT/AST (U/L) | LA (mg/dL) |
TG (mg/dL) |
TC (mg/dL) |
UA (mg/dL) |
|||||
| GSD type III | ||||||||||
| 1. M | 1.5 y/24 y | Followed | 18.5 | 46/105 | N/A | 74 | 153 | 5.4 | None; CK normal |
Balanced |
| 2. M | 4 y/25 y | Followed | 18.7 | 39/22 | N/A | 81 | 179 | N/A | None; CK normal |
Balanced |
| 3. M | 3 y/26 y | High-CH at the beginning then GSD III/VI/IX |
20.5 | 41/29 | N/A | 103 | 158 | N/A | None; CK normal |
Balanced |
| 4. F | 2 y/26 y | Followed | 22.3 | 21/25 | N/A | 83 | 227 | N/A | None; CK elevated (392 U/L) |
Balanced |
| 5. F | 6 y/33 y | Followed | 24.4 | 36/22 | N/A | N/A | N/A | N/A | None; CK normal |
Balanced |
| 6. F | 10 m/36 y | Followed | 23.2 | 79/84 | N/A | 86 | 206 | 6.6 | Back pain, fatigue; CK elevated (1336 U/L) |
Balanced |
| 7. F | 3 y/37 y | Followed | 24.6 | 64/44 | N/A | 220 | 188 | N/A | Fatigue; CK elevated (390 U/L) |
Balanced |
| 8. M | 4.5 y/32 y | Followed | 22 | 122/61 | N/A | 121 | 178 | N/A | None; CK normal |
Balanced |
| 9. M | 20 m/31 y | followed | 22.7 | 38/21 | N/A | 118 | 141 | 5.6 | None | Balanced |
| 10. F | 8 y/33 y | Followed | 24 | 34/21 | N/A | 40 | 130 | N/A | None | Balanced |
| 11. M | 2 y/20 y | Followed | 21.2 | 61/33 | 12 | 487 | 303 | 6.6 | DM type I diagnosed at 4 y | Moderate compliance/DM treated with insulin |
| 12. M | 2 y/21 y | Followed | 16 | 32/22 | N/A | 86 | 121 | 2.4 | None | Balanced |
| 13. M | 4 m/18 y | Followed | N/A | N/A | N/A | N/A | N/A | N/A | N/A | Follow-up: 6 years |
| 14. M | 3.5 y/22 y | Followed | N/A | N/A | N/A | N/A | N/A | N/A | N/A | Follow-up: 4 years |
| 15. M | N/A/18 y | Followed | N/A | N/A | N/A | N/A | N/A | N/A | N/A | Follow-up: 8 years |
| GSD type IX | ||||||||||
| 16. F | 3 y/33 y | Followed | 25.4 | 48/32 | N/A | 91 | 201 | N/A | HL/ Episodes of hypoglycemia in childhood |
Balanced/ When coming of age—normal diet |
Abbreviations: BMI—body mass index; LA—lactate acid; TG—triglycerides; TC—total cholesterol; UA—uric acid; CK—creatine kinase; CS—cornstarch; CH—carbohydrates; N/A—not available; HL—hyperlipidemia. Reference values: ALT < 45 U/L; AST < 35 U/L; LA 4.5–19.8 mg/dL; TG < 90 mg/dL; TC < 170 mg/dL; UA 3.4–7.0 mg/dL; CK < 195 U/L (men), < 170 U/L (women). Legend: high-carbohydrates and low-fat diet: 60–70% calories from carbohydrates, 10–15% calories from protein, and the remaining calories from fats; high-protein diet: 2–3 g of protein/kg; GSD III/VI/IX diet: low-fat, high-protein diet; moderate metabolic homeostasis—mild biochemical abnormalities, not severe organic complications.