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Related to Abetalipoproteinaemia: Abetalipoproteinemia neuropathy
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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
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n. abetalipoproteinemia, condición hereditaria caracterizada por la ausencia o deficiencia de betalipoproteina en el metabolismo de las grasas.
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References in periodicals archive ?
This includes abetalipoproteinaemia, hypobetalipoproteinaemia and Tangier disease (analphalipoproteinaemia).
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.