Table 1 Clinical and biological data of the patient.

Parental consanguinity

No

Age of onset of symptoms

5 months

Growth retardation (at birth)

Weight (SDS)

-2.93

Height (SDS)

-3.71

Head circumference (SDS)

-2.02

Chest circumference (%tile)

< 10

Digestive symptoms

Diarrhea

Deep tendon reflexes

Present, normal

Hematological (Acanthocytes)

Absent

Steatorrhea (g/24 hr)

12

Serum lipid (g/L) and vitamin values

Cholesterol (N: 1.2 - 2.2)

1.17, 1.09

LDL-cholesterol (N: 0.60 - 1.30)

0.57, 0.51

HDL-cholesterol (N > 0.40)

0.44, 0.43

Triglycerides (N: 0.27 - 1.20)

1.08, 1.17

ApoAI (N: 1.45+/-0.16)

1.19, 1.27

ApoB (N: 0.75+/-0.14)

0.52, 0.46

ALA (18:3n3) (N: 0.42-1.3 w/w%)

0.66

AA (20:4n6) (N: 4.19-9.57 w/w%)

3.8

EPA (N: 0.54-5.20 w/w%)

0.59

DHA (N: 2.33-7.34 w/w%)

2.32

Vitamin E (N: 7.5-14.1 mg/L)

6.6

Vitamin A (N: 970-3160 IU/L)

1060

AST (xULN)

ALT (x ULN)

1.7

Normal

CK (x ULN)

Normal

Endoscopy: white hoary frosting

+++

Intestinal biopsy: fat laden enterocytes

+++

Ultrastructural analysis

Lipid droplets

+++

Membrane bound lipoprotein-like particles

+++

Response to oral fat load

No chylomicrons