Abetalipoproteinemia neuropathy

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.

a·be·ta·lip·o·pro·tein·e·mi·a (

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An inherited disorder characterized by the absence of low-density lipoproteins in the plasma, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called Bassen-Kornzweig syndrome.

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-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.

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

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Aarskog syndrome acanthocyte acanthocytosis acquired immune deficiency syndrome Adie's syndrome AEC syndrome afferent loop syndrome Ahumada-del Castillo syndrome Alagille syndrome Alport's syndrome amnestic syndrome amniotic band syndrome Angelman's syndrome ankyloblepharon-ectodermal dysplasia-clefting syndrome anterior cord syndrome Apert's syndrome Bassen-Kornzweig syndrome de Lange's syndrome hypolipoproteinemia	abductor muscle of little finger abductor muscle of little toe abductor pollicis brevis abductor pollicis longus abductors ABECB Abell-Kendall method abembryonic ABER Aberdeen Angus Abernethy's sarcoma aberrancy aberrant Aberrant Claim aberrant conduction aberrant ductule aberrant goiter aberrant pigment metabolism aberrant regeneration aberrant ventricular conduction aberrated aberratio aberration aberroscope abetalipoproteinemia Abetalipoproteinemia neuropathy abeyance ABFP abfraction abfraction area ABG ABGs abhyanga ABI abient Abildgaard method Abilify ability ability to practice medicine abiogenesis abiosis abiotrophic disease abiotrophy abirritant abirritation abirritative abl ablactation ablastemic ablastin ablate	Aberystwyth, Wales Aberyswyth Aberyswyth Aberywstwyth Aberywstwyth ABES ABESA ABESAP ABESE ABESO ABESPA abessive Abessive case ABEST ABestWeb abet abet abet abet abet in Abeta amyloid Abeta amyloid Abeta amyloid Abeta region of the Abeta protein precursor Abeta-Related Angiitis Abetalipoproteinaemia Abetalipoproteinaemia abetalipoproteinemia abetalipoproteinemia abetalipoproteinemia Abetalipoproteinemia neuropathy AbetaPP abetment abetment abetment abets abets abets Abettal abetted abetted abetted abetter abetter abetters abetters abetting abetting abetting abettor abettor abettor abettors abettors ABEU ABEVA Abevacuation ABEX abeyance abeyance abeyance

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Aarskog syndrome
acanthocyte
acanthocytosis
acquired immune deficiency syndrome
Adie's syndrome
AEC syndrome
afferent loop syndrome
Ahumada-del Castillo syndrome
Alagille syndrome
Alport's syndrome
amnestic syndrome
amniotic band syndrome
Angelman's syndrome
ankyloblepharon-ectodermal dysplasia-clefting syndrome
anterior cord syndrome
Apert's syndrome
Bassen-Kornzweig syndrome
de Lange's syndrome
hypolipoproteinemia

abetalipoproteinemia (redirected from Abetalipoproteinemia neuropathy)

abetalipoproteinemia
(redirected from Abetalipoproteinemia neuropathy)