Bassen-Kornzweig syndrome


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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]

Bassen-Kornzweig syndrome

Bassen-Kornzweig syndrome

A rare autosomal recessive MIM 200100 condition most common in Askanazi Jews.
 
Clinical findings
Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhea, abdominal bloating, chronic diarrhoea, anaemia, failure to thrive, progressive vision loss, retinitis pigmentosa.
 
Laboratory
Acanthocytosis, decreased VLDL-cholesterol, decreased LDL-cholesterol, absent apolipoprotein B-48 and B-100.
 
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

Kornzweig,

(Kornsweig), Abraham L., U.S. physician, 1900–.
Bassen-Kornzweig disease - Synonym(s): Bassen-Kornzweig syndrome
Bassen-Kornzweig syndrome - see under Bassen