abetalipoproteinemia

(redirected from Abetalipoproteinaemia)
Also found in: Thesaurus, Medical.
Related to Abetalipoproteinaemia: Abetalipoproteinemia neuropathy
ThesaurusAntonymsRelated WordsSynonymsLegend:
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 levels
hypobetalipoproteinemia - a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
Translations

a·be·ta·lip·o·pro·tein·e·mi·a

[MIM*200100]
n. abetalipoproteinemia, condición hereditaria caracterizada por la ausencia o deficiencia de betalipoproteina en el metabolismo de las grasas.
References in periodicals archive ?
While the signs of cerebellar dysfunction had started acutely, their continuation for more than 2 weeks prompted further investigation for an inherited cause of progressive chronic ataxia (our differential diagnosis included ataxia telangiectasia (no telangiectasia were present clinically and the immunoglobulin levels were normal), abetalipoproteinaemia, Friedreich's ataxia and spinocerebellar ataxia.
While neonates with abetalipoproteinaemia develop normally in utero, they may fail to thrive as they malabsorb fat.
Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.