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.

Acanthocytosis

Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


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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.
16835471
 FEMALE
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile.
Kaneko M, Ohni M, Sugiyama Y, Mizukawa S, Toba K, Sakamoto A, Hata Y.
J Atheroscler Thromb. 2006;13(3):158-61.
We report the autopsy of a 79-year-old Japanese woman with Dubin-Johnson syndrome accompanied by pneumonia, an abetalipoproteinemia-like lipid profile and acanthocytosis.
12449451
 FEMALE
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa.
Takeshita J, Arai Y, Hirose N, Tsukamoto H, Shirahase J.
Am J Med Sci. 2002;324(5):281-4.
We report the case of a 17-year-old woman with anorexia nervosa (AN) who developed an abetalipoproteinemia-like lipid profile and acanthocytosis.
12449451
 FEMALE
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa.
Takeshita J, Arai Y, Hirose N, Tsukamoto H, Shirahase J.
Am J Med Sci. 2002;324(5):281-4.
Abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa.
11940084
 FEMALE Adult
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.
Hegele RA, Miskie BA.
Clin Genet. 2002;61(2):101-3.
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.
11940084
 FEMALE Adult
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.
Hegele RA, Miskie BA.
Clin Genet. 2002;61(2):101-3.
We report on acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B.
11592517
 MALE Infant
Abetalipoproteinemia: a case report.
Selimoglu MA, Esrefoglu M, Gundogdu C, Kilic A.
Turk J Pediatr. 2001;43(3):243-5.
Abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa.
2787138
 MALE Adult
Angioid streaks associated with abetalipoproteinemia.
Dieckert JP, White M, Christmann L, Lambert HM.
Ann Ophthalmol. 1989;21(5):173-5, 179.
Angioid streaks have now been described in hereditary spherocytosis, beta thalassemia, alpha thalassemia, sickle cell anemia, and acanthocytosis secondary to abetalipoproteinemia and hypobetalipoproteinemia.
3692094
 FEMALE Adult
[Abetalipoproteinemia. Apropos of 2 cases].
Willemin B, Coumaros D, Zerbe S, Weill-Bousson M, Annonier P, Hirsch E, Aby MA, Schmutz G, Bockel R.
Gastroenterol Clin Biol. 1987;11(10):704-8.
Both presented the complete clinical and biological features of the disease: ataxia, retinitis pigmentosa, lack of apolipoprotein B, chylomicrons, LDL and VLDL, reduced titers of serum cholesterol and triglycerides, acanthocytosis, very low levels of serum vitamin A and E. Abetalipoproteinemia is a rare autosomal inherited disease.
6472810
 MALE Infant, Newborn
Abetalipoproteinemia. Report of an unusual patient.
Judisch GF, Rhead WJ, Miller DK.
Ophthalmologica. 1984;189(1-2):73-9.
Abetalipoproteinemia (Bassen-Kornzweig syndrome, acanthocytosis) was diagnosed at age 13 months in a black male.