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单词 abetalipoproteinemia
释义

abetalipoproteinemia

enUS
Thesaurus
Noun1.abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levelscongenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited geneticallyhypobetalipoproteinemia - a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterollipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
Translations

abetalipoproteinemia

enUS

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. Synonym(s): Bassen-Kornzweig syndrome [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 syndromeBassen-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]
See ABL
See ATLAS Basic Language

abetalipoproteinemia

enUS
  • noun

Words related to abetalipoproteinemia

noun a rare inherited disorder of fat metabolism

Related Words

  • congenital disease
  • genetic abnormality
  • genetic defect
  • genetic disease
  • genetic disorder
  • hereditary condition
  • hereditary disease
  • inherited disease
  • inherited disorder
  • hypobetalipoproteinemia
  • lipidosis
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更新时间:2024/12/25 2:07:24