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Table 4 The laboratory profiles and treatment of CRD

From: Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria

The laboratory profiles
Hypocholesterolemia:
 ↓ TC, ↓ HDL-c, ↓LDL-c, normal TG
 acanthocytosis, ↑CK
 ↓ fat-soluble vitamins (A, D, E, K)
 ↓essential fatty acids (EFA)
Treatment
 exclusion of long-chain fatty acids from the diet
supplementation with fat-soluble vitamins:
hydrosoluble vitamin E: 50 UI/kg/d
vitamin A: 15,000 IU/d
vitamin K: 15 mg/wk.
vitamin D: 800-1200 UI/kg/d; 100,000 IU/2 months (≤5-yr), 600,000 IU/2 months (> 5-yr)
  1. TC total cholesterol, HDL-c high-density lipoprotein cholesterol, LDL-c low-density lipoprotein cholesterol, TG triglycerides, CK creatine kinase, EFA essential fatty acids