Abetalipoproteinemia

A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

Hypocholesterolemia

An decreased concentration of cholesterol in the blood.


Total: 2

                       


(per page)
PMID (PMCID)
21502686
 FEMALE Infant
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
Sani MN, Sabbaghian M, Mahjoob F, Cefalu AB, Averna MR, Rezaei N.
Ann Hepatol. 2011;10(2):221-6.
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy.
18611256
(2467409)
 FEMALE Middle Aged
Abetalipoproteinemia: two case reports and literature review.
Zamel R, Khan R, Pollex RL, Hegele RA.
Orphanet J Rare Dis. 2008;3:19.
Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy.