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.

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

/abeta·lipo·pro·tein·emia/ (a-ba″tah-lip″o-pro″te-ne´me-ah) a hereditary syndrome marked by a lack of lipoproteins that contain apolipoprotein B (chylomicrons, very-low-density lipoproteins, and low-density lipoproteins) in the blood and by acanthocytosis, hypocholesterolemia, progressive ataxic neuropathy, atypical retinitis pigmentosa, and malabsorption.
normotriglyceridemic abetalipoproteinemia  a variant form in which apolipoprotein (apo) B-48 is present but apo B-100 is absent; chylomicrons are formed, and some fat absorption may occur.

abetalipoproteinemia

[əbā′təlīp′ōprō′tinē′mē·ə]
Etymology: Gk, a + beta, not beta, lipos, fat, proteios, first rank, haima, blood
a group of rare inherited disorders of fat metabolism, characterized by the absence of apoprotein B-100 and manifested by acanthocytosis, low or absent serum beta-lipoprotein levels, and hypocholesterolemia. In severe cases, steatorrhea, ataxia, nystagmus, motor incoordination, and retinitis pigmentosa occur. Also called Bassen-Kornzweig syndrome [-kôrn′zwīg] .

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]