Table 1.
Clinical manifestations of Iranian patients.
| Patients /gender/GSD type | Onset (month) | Clinical indication | Marriage type | Short stature (< 3%) | TGa (mg/dL) | T.Chola (mg/dL) | LDHa U/L | BCR | Ph | Uric acidb (mg/dL) | CPKc (U/L) | Plateletd (10*3/µL) | Albe (g/dL) | ASTf (U/L) | ALTf (U/L) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1/F/Ib | 1 | Hypoglycemia, hepatomegaly , and low WBC, high RBC and platelets | Consanguineous | – | 709 | 139 | 347 | – | Acidic | 5.5 | 35 | 529 | 3.8 | 121 | 78 |
| P2/F/GSD III | 23 | Hypoglycemic seizures at age 2, hepatomegaly | Consanguineous | Yes | 584 | 279 | 1950 | 17.5 | – | 4.5 | 190 | 400 | 4.6 | 3300 | 1310 |
| P3/M/III | 9 | Hepatomegaly, hypoglycemia | Consanguineous | Yes | 336 | 231 | 1540 | 32.5 | – | 4.8 | 202 | 411 | 4.3 | 492 | 693 |
| P4/F/III | 9 | Hepatomegaly, hypoglycemia | Consanguineous | Yes | – | – | 754 | 27.5 | – | 4 | 1120 | 470 | 4.3 | 382 | 502 |
| P5/M/III | 18 | Hepatomegaly, abdominal Protrusion | Consanguineous | No | 639 | 360 | 841 | 35 | – | 4.7 | 585 | 283 | 4.2 | 308 | 568 |
| P6/M/IV | 16 | Hepatomegaly, enlargement of spleen | Consanguineous | No | 102 | 149 | 60 | 28.9 | – | 5.5 | 370 | 480 | 4.3 | 199 | 114 |
| P7/F/VI | 24 | Hepatomegaly | Consanguineous | Yes | 223 | 98 | 590 | 48 | Acidic | 3.8 | 129 | 397 | 4.4 | 78 | 182 |
| P8/M/VI | 12 | Hepatomegaly, Abdominal Protrusion, malaise | Consanguineous | No | 144 | 159 | – | 45 | – | – | 118 | 461 | 4.2 | 141 | 172 |
| P9/F/IXc | 6 | Hepatomegaly, hypoglycemia | Non-consanguineous | Yes | 160 | 141 | 504 | 12.5 | – | – | 141 | – | 4.2 | 318 | 173 |
| P10/M/IXb | 8 | Hepatomegaly | Consanguineous | Yes | 156 | 218 | 25 | – | – | 342 | 331 | 4.4 | 660 | 600 | |
| P11/F/Ib, IXb | 35 | Asymptomatic ( poor feeding), low WBC | Consanguineous | No | 498 | 313 | 600 | 20 | Acidic | 5.8 | – | 201 | 4.4 | 520 | 466 |
| P12/M/X | 21 | Mild hepatomegaly, low creatinine | Consanguineous | No | 401 | 279 | 584 | 50 | acidic | – | – | 370 | 4.7 | 606 | 643 |
| P13/F/glycogen storage disease of heart, lethal congenital | 1 | Hepatomegaly | Non-consanguineous | Yes | 66 | 195 | 20 | – | – | 18 | 221 | 3.8 | 28 | 11 | |
| P14/F/NA | 20 | Hepatomegaly, FTT, diarrhea, vomiting, high platelet | Consanguineous | Yes | 126 | 154 | 414 | 12.5 | Acidic | 1.5 | – | 477 | 4.1 | 136 | 107 |
GSD glycogen storage disease, FTT failure to thrive, TG triglyceride, Chol cholesterol, BCR blood urea nitrogen (BUN)/creatinine ratio, Alb albumin, ALT alanine transaminase, AST aspartate transaminase, CPK creatine phosphokinase.
aReference range for TG, Total chol < 150 mg/dL; LDH < 480 U/L.
bReference normal range for uric acid 3.5–8.2 mg/dL.
cReference normal range for CPK 24–195 U/L.
dReference normal range for Platelet 145–450 10*3/µL.
eReference normal range for Alb = 3.5–5.4 g/dL.
fReference range for liver enzymes: ALT < 40 U/L; AST < 45 U/L.