|
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
|
