abetalipoproteinemia

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Related to Betalipoprotein Deficiency Disease: Lipoprotein lipase deficiency

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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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]
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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
Medical Eponyms © Farlex 2012

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]
Medical Dictionary for the Dental Professions © Farlex 2012