2017-08-03T16:06:01+03:00[Europe/Moscow] en true Tangier disease, Hypertriglyceridemia, Familial hypercholesterolemia, Abetalipoproteinemia, Lipoprotein lipase deficiency, Familial dysbetalipoproteinemia, Familial hypertriglyceridemia, Urbach–Wiethe disease, Inborn error of lipid metabolism, Hypercholesterolemia, Chylomicron retention disease, Lipomatosis, Lecithin cholesterol acyltransferase deficiency, Hypobetalipoproteinemia, Apolipoprotein B deficiency, Hypoalphalipoproteinemia, Hypolipoproteinemia flashcards
Lipid metabolism disorders

Lipid metabolism disorders

  • 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.
  • Hypertriglyceridemia
    Hypertriglyceridemia denotes high (hyper-) blood levels (-emia) of triglycerides, the most abundant fatty molecule in most organisms.
  • 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.
  • 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.
  • 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.
  • 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.
  • Familial hypertriglyceridemia
    Familial hypertriglyceridemia is an autosomal dominant condition occurring in approximately 1% of the population.
  • 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.
  • Inborn error of lipid metabolism
    Numerous genetic disorders are caused by errors in fatty acid metabolism.
  • Hypercholesterolemia
    Hypercholesterolemia, also called dyslipidemia, is the presence of high levels of cholesterol in the blood.
  • Chylomicron retention disease
    Chylomicron retention disease is a disorder of fat absorption.
  • Lipomatosis
    Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on the body.
  • Lecithin cholesterol acyltransferase deficiency
    Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism.
  • Hypobetalipoproteinemia
    Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile.
  • 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.
  • 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.