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Table 1 Clinical and biological data of the patient.

From: Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence

Parameter 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
  1. SDS: Standard deviation score, ALA: Alpha linolenic acid; AA: Arachidonic acid; EPA: Eicosapentaenoic acid; DHA: Docosahexaenoic acid;ULN: Upper limit of normal; +, ++, +++: present in increasing amounts; AST: Aspartate Amino Transferase; ALT: Alanine Amino Transferase; CK: Creatine kinase. The values were obtained at 6-11 months of age.