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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
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BMC Pediatrics

ISSN: 1471-2431

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