hypobetalipoproteinemia


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Related to hypobetalipoproteinemia: abetalipoproteinemia, Tangier disease

hy·po·be·ta·lip·o·pro·tein·e·mi·a

(hī'pō-bā'tă-lip'ō-prō'tēn-ē'mē-ă), [MIM*107730]
Abnormally low levels of β-lipoproteins in the plasma, occasionally with acanthocytosis and neurologic signs; autosomal dominant inheritance; caused by mutation in the apolipoprotein B gene (APOB) on 2p.
See also: abetalipoproteinemia.
Farlex Partner Medical Dictionary © Farlex 2012

hy·po·be·ta·lip·o·pro·tein·e·mi·a

(hī'pō-bā'tă-lip'ō-prō-tēn-ē'mē-ă)
Abnormally low levels of β-lipoproteins in the plasma, occasionally with acanthocytosis and neurologic signs.
See also: abetalipoproteinemia
Synonym(s): hypobetalipoproteinaemia.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

hy·po·be·ta·lip·o·pro·tein·e·mi·a

(hī'pō-bā'tă-lip'ō-prō-tēn-ē'mē-ă) [MIM*107730]
Abnormally low levels of β-lipoproteins in plasma, occasionally with acanthocytosis and neurologic signs.
Synonym(s): hypobetalipoproteinaemia.
Medical Dictionary for the Dental Professions © Farlex 2012
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References in periodicals archive ?
Patients who are homozygous for familial hypobetalipoproteinemia (FHBL) will usually have one parent with a low apolipoprotein B (apo B) value.
[5] Nonstandard abbreviations: T2DM, type 2 diabetes mellitus; TC, total cholesterol; LDL-C, LDL cholesterol; apo B, apolipoprotein B; HBL, hypobetalipoproteinemia; ABL, abetalipoproteinemia; CMRD, chylomicron retention disease; FHBL, familial HBL; MGUS, monoclonal gammopathy of undetermined significance.
A truncated species of apolipoprotein B (1367) in a kindred with familial hypobetalipoproteinemia. J Clin Invest 1991;87:1748-54.
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem 2003;278:13442-52.
Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B.
Fatty liver in a case with heterozygous familial hypobetalipoproteinemia. Am J Gastroenterol 1997;92:339-42.
Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.
Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity.
We described the first case of APOB-linked hypobetalipoproteinemia that is caused by a missense mutation, R463W (25).
Frequency of apoB and apoE gene mutations as causes of hypobetalipoproteinemia in the Framingham offspring population.
Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.