Table 1.
Detailed characteristics of adult patients with GSD type I included in the study (n = 14).
| GSD Ia | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient’s Number and Gender |
Age at Diagnosis/ Current Age (m—Months, y—Years) |
Diet | Laboratory Results at 18 y | Complications and Age of Appearance | Metabolic Homeostasis at Present | ||||||
| BMI (kg/m2) |
ALT/AST (U/L) | LA (mg/dL) |
TG (mg/dL) |
TC (mg/dL) |
UA (mg/dL) |
||||||
| 1. M | 12 m/46 y | Followed | 23.2 | 36/43 | 76.5 | 2190 | 544 | 7.8 | HCA/KS/HT/HL/HU and gout; since adolescence |
Moderate (HL and HT) |
|
| 2. F | 6 m/19 y | Followed | 23.7 | 21/21 | 65 | 563 | 325 | 5.8 | IBD/HT/Recurrent nose bleeding; since childhood and adolescence |
Moderate (HL and HT) |
|
| 3. M | 12 m/25 y | Followed; Additional glucose intake (drinks) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | |
| 4. F | 5 m/24 y | Followed | 23.3 | 42/60 | 40 | 919 | 439 | 5.8 | HT/HL/M; Since adolescence and adulthood |
Moderate (HL and HT) |
|
| 5. F | 3 y/43 y | Followed | 22.6 | 67/68 | 116 | 1470 | 342 | 9.3 | M/HCA/HL/HU; Since adolescence and adulthood |
Unbalanced | |
| 6. F | 6 m/35 y | Followed | N/A | N/A | N/A | >1000 | N/A | N/A | HCA/HL/HT; Since adolescence |
Due to improvement in patient’s compliance the metabolic homeostasis is stable now/ HCA disappeared | |
| 7. M | 4 y/43 y | Followed | 22.6 | 62/23 | 81 | 219 | 177 | 8.3 | RH/HCA/HU; Since adolescence |
Balanced/ Born a healthy child |
|
| 8. M | 2 y/31 y | Followed | 22.3 | 70/42 | 116 | 723 | 307 | 8.2 | SS/HU/HL; Since childhood |
Moderate/ Due to non-compliance HCA/HT/HU/ HL developed |
|
| GSD Ib | |||||||||||
| 9. M | 1.5 y/31 y | Followed | N/A | N/A | N/A | N/A | N/A | N/A | IgA-N/HT/Neu (800/uL), Neupogen introduced since 13 y (AP before that)/ Since childhood |
Moderate | |
| 10. M | 10 m/24 y | Followed | N/A | 6/11 | N/A | 52 | 88 | 5.5 | Neu (600/uL)/Recurrent mouth and gingival infections/Sensorineural hearing loss (hearing aids)/HT/AP/ since childhood |
Balanced | |
| 11. F | 6 y/27 y | Followed | 20 | 26/26 | 28 | 259 | 109 | 8 | IBD/HT/HU/ Neu (1300/µL), Neupogen introduced since 10 y (AP before that)/ Since childhood |
Moderate/ Recurrent IBD flares at adulthood |
|
| 12. M | 6 m/26 y | Followed | 17 | 7/13 | 139 | 170 | 78 | 5.3 | IBD, HT/Arthritis/Neu (600/µL), Neupogen since 8 y. (AP before that)/ Since childhood |
Unbalanced/ Recurrent IBD flares at adulthood, cannot walk due to arthritis, depression |
|
| 13. F | N/A 47 y |
Followed | N/A | 8/22 | 30 | 193 | 167 | 6.7 | Recurrent infections due to Neu, only AP, Neupogen has never been administered/ Since childhood |
Moderate | |
| 14. F | 7 y/40 y | Followed | 39.6 | 29/27 | 8 | 36 | 65 | 6.9 | KS/ since adolescence |
Balanced/ gave birth to a healthy child |
|
Abbreviations: BMI—body mass index; LA—lactate acid; TG—triglycerides; TC—total cholesterol; UA—uric acid; HCA—hepatocellular adenoma; IBD—inflammatory bowel disease; CS—cornstarch; Neu—neutropenia; N/A—not available; KS—kidney stones; HT—hypertension; HL—hyperlipidemia; HU—hyperuricemia; O—overweight; SS—short stature; M—menorrhagia; AP—antibiotic prophylaxis. 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. Legend: GSD I diet: regular meals/diet without simple sugars/CS regularly during the day and at night; 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; moderate metabolic homeostasis: mild-moderate biochemical abnormalities, no severe organic complications.