Patients | AD1 | AD2 | AD3 |
---|---|---|---|
   Parental consanguinity | yes | no | |
   Age of onset of symptoms | 3 months | 1 month | 3 months |
   Growth retardation |  |  |  |
Weight | -1 SD | -1 SD | - 2 SD |
Height | Normal | Normal | - 2 SD |
   Digestive symptoms | diarrhea, abdominal distension | ||
   Deep tendon reflexes | + | + | + |
   Hematological (Acanthocytes) | < 1% | Normal | 5% |
   Steatorrhea (g/24 hr) | 2.2 | 4.9 | 2 |
Cholesterol (N: 1.50 - 2.80) | 1.01 | 1.05 | 0.89 |
LDL-cholesterol (N: 0.80 - 1.50) | 0.57 | 0.49 | 0.38 |
(g/L) HDL-cholesterol (N >0.45) | 0.22 | 0.32 | 0.27 |
Triglycerides (N: 0.50 - 1.70) | 1.10 | 1.20 | 1.20 |
ApoA-1 (N: 1 - 2.15) | 0.70 | 0.90 | 0.50 |
ApoB (N: 0.55 - 1.40) | 0.56 | 0.43 | 0.82 |
Vitamin E (N: 8 - 17 mg/L) | 1.8 | 2.8 | 1 |
Vitamin E/Lipid (N >1.9 mg/g) | 0.9 | 1.3 | 0.5 |
Vitamin A (N: 240 - 900 mg/L) | 682 | 107 | 254 |
   ASAT (x ULN) | 1.5 | 1.6 | 1 |
   ALAT (x ULN) | 1 | 1 | 1 |
   CK (x ULN) | 1.7 | 1.4 | 1.7 |