abetalipoproteinemia


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abetalipoproteinemia

 [a-ba″tah-lip″o-pro″te-ne´me-ah]
a rare autosomal recessive syndrome marked by a lack of low-density lipoproteins (β-lipoproteins) in the blood and by acanthocytosis, hypercholesterolemia, progressive ataxic neuropathy, atypical retinitis pigmentosa involving the macula, and malabsorption. Called also Bassen-Kornzweig syndrome.

a·be·ta·lip·o·pro·tein·e·mi·a

(ā-bā'tă-lip'ō-prō'tēn-ē'mē-ă), [MIM*200100]
A disorder characterized by an absence of low-density β-lipoprotein, presence of acanthocytes in blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance, caused by mutation in the gene-encoding microsomal triglyceride transfer protein (MTP) on chromosome 4q.
[G. a-, priv., + β, + lipoprotein + -emia, blood]

abetalipoproteinemia

A rare autosomal recessive MIM 200100 condition, which is most common in Ashkenazi Jews.
 
Clinical findings
Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhoea, chronic diarrhoea, anaemia, failure to thrive.

Lab
Acanthocytosis, decreased VLDL-cholesterol, decreased LDL-cholesterol, absent apoB when homozygous.
 
Management
Medium-chain TGs, water-miscible vitamin E.

abetalipoproteinemia

Bassen-Kornzweig syndrome A rare AR condition most common in Askanazi Jews Clinical Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhea, chronic diarrhea, anemia, FTT Lab Acanthocytosis, ↓ VLDL-cholesterol, ↓ LDL-cholesterol, absent apoB, when homozygous Management Medium-chain TGs, water-miscible vitamin E

a·be·ta·lip·o·pro·tein·e·mi·a

(ā-bā'tă-lip'ō-prō'tē-nē'mē-ă)
A disorder characterized by an absence from plasma of low density lipoproteins that migrate electrophoretically as beta globulins, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance.
Synonym(s): Bassen-Kornzweig syndrome, abetalipoproteinaemia.
[G. a-, priv., + β, + lipoprotein + -emia, blood]

Bassen,

Frank A., U.S. physician, 1903–.
Bassen-Kornzweig disease - Synonym(s): Bassen-Kornzweig syndrome
Bassen-Kornzweig syndrome - autosomal recessive trait causing retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities. Synonym(s): abetalipoproteinemia; Bassen-Kornzweig disease

a·be·ta·lip·o·pro·tein·e·mi·a

(ā-bā'tă-lip'ō-prō'tē-nē'mē-ă) [MIM*200100]
A disorder characterized by an absence of low-density β-lipoprotein, presence of acanthocytes in blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities.
Synonym(s): abetalipoproteinaemia.
[G. a-, priv., + β, + lipoprotein + -emia, blood]
References in periodicals archive ?
[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.
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation.
[4] Nonstandard abbreviations: FHBL, familial hypobetalipoproteinemia; apoB, apolipoprotein B; ABL, abetalipoproteinemia; GC-MS, gas chromatography-mass spectrometry; and CEHC, 2,5,7,8-tetramethyl-2(2'-carbo)cyethyl)6-hydroxychroman.
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 1992; 258:999-1001.
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995;57:1298-310.