"Abetalipoproteinemia" References in the ICD-10-CM Index to Diseases and Injuries
- Abetalipoproteinemia - E78.6 Lipoprotein deficiency
Applicable Clinical Terms Definitions
Abetalipoproteinemia: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.