What does abetalipoproteinemia mean?
Definitions for abetalipoproteinemia
abetal·ipopro·teine·mi·a
This dictionary definitions page includes all the possible meanings, example usage and translations of the word abetalipoproteinemia.
Princeton's WordNet
abetalipoproteinemianoun
a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
Wiktionary
abetalipoproteinemianoun
A rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.
Wikipedia
Abetalipoproteinemia
Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.It is a rare autosomal recessive disorder.
ChatGPT
abetalipoproteinemia
Abetalipoproteinemia is a rare inherited disorder that affects the body's ability to fully absorb certain dietary fats, cholesterol, and certain vitamins. People with this disorder cannot make enough of a certain protein, ApoB, needed for the body to create particles that transport these fats and vitamins in the bloodstream. This leads to multiple severe symptoms such as malnutrition, poor growth, muscle weakness and vision problems.
Wikidata
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. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.
U.S. National Library of Medicine
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.
Matched Categories
Numerology
Chaldean Numerology
The numerical value of abetalipoproteinemia in Chaldean Numerology is: 3
Pythagorean Numerology
The numerical value of abetalipoproteinemia in Pythagorean Numerology is: 8
Translations for abetalipoproteinemia
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- abetalipoproteinemiaSpanish
- abeetalipoproteinemiaFinnish
- abetalipoproteinemiaItalian
- abetalipoproteinemiaPortuguese
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