2017-08-01T18:15:01+03:00[Europe/Moscow] en true Abetalipoproteinemia, Urbach–Wiethe disease, Familial hypertriglyceridemia, Familial hypercholesterolemia, Hypertriglyceridemia, Chylomicron retention disease, Inborn error of lipid metabolism, Familial dysbetalipoproteinemia, Lecithin cholesterol acyltransferase deficiency, Hypercholesterolemia, Lipomatosis, Apolipoprotein B deficiency, Hypoalphalipoproteinemia, Tangier disease, Hypolipoproteinemia, Hypobetalipoproteinemia, Lipoprotein lipase deficiency flashcards
Lipid metabolism disorders

Lipid metabolism disorders

  • 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.