abetalipoproteinemia

(redirected from Familial hypobetalipoproteinemia)
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Noun1.abetalipoproteinemia - 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
hypobetalipoproteinemia - a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
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Translations

a·be·ta·lip·o·pro·tein·e·mi·a

[MIM*200100]
n. abetalipoproteinemia, condición hereditaria caracterizada por la ausencia o deficiencia de betalipoproteina en el metabolismo de las grasas.
English-Spanish Medical Dictionary © Farlex 2012
References in periodicals archive ?
Familial hypobetalipoproteinemia (FHBL, [4] OMIM 107730) is a rare autosomal codominant disorder of lipoprotein metabolism in which sequence variations in the apolipoprotein B (APOB) [5] gene lead to decreased plasma concentrations of total cholesterol, LDL-cholesterol, and apolipoprotein (apo) B (below the 5th percentile for age and sex) (1-3).
Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder characterized by low plasma concentrations of LDL-cholesterol and apolipoprotein (apo) B.
Two genetic disorders of lipid metabolism attributed to mutations in the APOB gene are familial hypobetalipoproteinemia (FHBL; OMIM 107730) and familial ligand-defective apoB-100 (FDB; OMIM 107730)

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