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.

hypobetalipoproteinemia

[hī′pōbā′təlip′ōprō′tēnē′mē·ə]
Etymology: Gk, hypo + beta, second letter of Greek alphabet, lipos, fat, proteios, first rank, haima, blood
an inherited disorder in which there are less than normal amounts of beta-lipoprotein in the serum. Blood lipids and cholesterol are present at less than the expected levels regardless of dietary intake of fats. There are no clinical signs, and treatment is unnecessary. Compare hyperbetalipoproteinemia.

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.

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.
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References in periodicals archive ?
A truncated species of apolipoprotein B (1367) in a kindred with familial hypobetalipoproteinemia.
11040T>G, has been described in another family with hypobetalipoproteinemia and leads to production of apoB-80.
A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.
Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B.
Fatty liver in a case with heterozygous familial hypobetalipoproteinemia.
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.