E78.6

Lipoprotein deficiency

A disorder of lipoprotein metabolism caused by mutations in the lcat gene. It is characterized by deficiency of the enzyme lecithin cholesterol acyltransferase. It is manifested with corneal opacity, hemolytic anemia, and proteinuria.

A metabolic disorder characterized by deficiency of high density alpha) lipoprotein in the blood.

A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the tissues. Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia.

An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.

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.

An autosomal recessively inherited disorder caused by mutation of atp-binding cassette transporters involved in cellular cholesterol removal reverse-cholesterol transport). It is characterized by near absence of alpha-lipoproteins high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in hepatomegaly; splenomegaly; retinitis pigmentosa; large orange tonsils; and often sensory polyneuropathy. The disorder was first found among inhabitants of tangier island in the chesapeake bay, md.

An autosomal recessively inherited disorder caused by mutation of lecithin cholesterol acyltransferase that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low hdl-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal opacity, hemolytic anemia anemia, hemolytic), and proteinuria.

Autosomal recessive disorder of lipoprotein and lipid metabolism characterized by absence in plasma of normal high-density lipoprotein, deficiency of apolipoproteins ai and aii, low to normal low-density lipoproteins, high triglycerides and accumulation in body tissues of cholesteryl esters.

Conditions with abnormally low levels of alpha-lipoproteins high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding apolipoprotein a-i; lecithin cholesterol acyltransferase; and atp-binding cassette transporters.

Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins high-density lipoproteins); beta-lipoproteins low-density lipoproteins); and prebeta-lipoproteins very-low-density lipoproteins).

Disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria.

Disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein b and apob containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired.

E78.6 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of E78.6 – other international versions of ICD-10 E78.6 may differ.