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Table 1 Clinical and biological data of Patients.

From: Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

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

  1. ULN: Upper limit of normal; SD: Standard Deviation; + present in decreasing amounts; ASAT: Aspartate Amino Transferase; ALAT: Alanine Amino Transferase; CK: Creatine kinase