Lipid metabolism disorders Test and Flashcards

Abetalipoproteinemia

Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.

Urbach–Wiethe disease

Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with approximately 400 reported cases since its discovery.

Familial hypertriglyceridemia

Familial hypertriglyceridemia is an autosomal dominant condition occurring in approximately 1% of the population.

Familial hypercholesterolemia

Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease.

Hypertriglyceridemia

Hypertriglyceridemia denotes high (hyper-) blood levels (-emia) of triglycerides, the most abundant fatty molecule in most organisms.

Chylomicron retention disease

Chylomicron retention disease is a disorder of fat absorption.

Inborn error of lipid metabolism

Numerous genetic disorders are caused by errors in fatty acid metabolism.

Familial dysbetalipoproteinemia

Familial dysbetalipoproteinemia or type III hyperlipoproteinemia (also known as "remnant hyperlipidemia", "remnant hyperlipoproteinaemia", "broad beta disease" and "remnant removal disease") is a condition characterized by increased total cholesterol and triglyceride levels, and decreased HDL levels.

Lecithin cholesterol acyltransferase deficiency

Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism.

Hypercholesterolemia

Hypercholesterolemia, also called dyslipidemia, is the presence of high levels of cholesterol in the blood.

Lipomatosis

Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on the body.

Apolipoprotein B deficiency

Apolipoprotein B deficiency (also known as "Familial defective apolipoprotein B-100") is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor (LDL Receptor) (see native LDL-ApoB structure at 37°C on YouTube) .

Hypoalphalipoproteinemia

Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.

Tangier disease

Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol," in the bloodstream.

Hypolipoproteinemia

Hypolipoproteinemia, hypolipidemia, or hypolipidaemia (British English) is a form of dyslipidemia that is defined by abnormally lowered levels of any or all lipids and/or lipoproteins in the blood.

Hypobetalipoproteinemia

Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile.

Lipoprotein lipase deficiency

Lipoprotein lipase deficiency (also known as "familial chylomicronemia syndrome", "chylomicronemia", "chylomicronemia syndrome" and "hyperlipoproteinemia type Ia") is a rare autosomal recessive lipid disorder caused by a mutation in the gene which codes lipoprotein lipase.

Flashcards: Lipid metabolism disorders