Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Betalipoprotein deficiency

Betalipoprotein deficiency is a group of disorders that includes hypobetalipoproteinemia and abetalipoproteinemia, disorders with low LDL concentration or absent LDL particles.

Systematic

Dyslipidemia
Apolipoprotein deficiency
Betalipoprotein deficiency
Abetalipoproteinemia
MTTP
Hypobetalipoproteinemia
ANGPTL3
APOB
Epigenetic dyslipidemia
Hyperalphalipoproteinemia 1
Hyperalphalipoproteinemia 2
Hyperlipemia
Hypoalphalipoproteinemia
Hypobetalipoproteinemia

References:

1.

Wetterau JR et al. (1992) Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.

[^]
2.

Benayoun L et al. (2007) Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

[^]
3.

Talmud PJ et al. (1988) Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.

[^]
4.

Partin JS et al. (1974) Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis.

[^]
5.

Shoulders CC et al. (1993) Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

[^]
6.

Sharp D et al. (1993) Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.

[^]
7.

Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

[^]
8.

Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.

[^]
9.

Romeo S et. al. (2009) Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

[^]
10.

Scanu AM et al. (1974) A study of the abnormal lipoproteins in abetalipoproteinemia.

[^]
11.

DRUEZ G et al. () [New case of acanthocytosis: congenital erythrocytic abnormalities with retinitis, neurological disorders & degenerative stigmata].

[^]
12.

MIER M et al. (1960) Acanthrocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome and associated metabolic disorder.

[^]
13.

ISSELBACHER KJ et al. (1964) CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS.

[^]
14.

SOBREVILLA LA et al. (1964) DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME).

[^]
15.

SINGER K et al. (1952) Acanthrocytosis; a genetic erythrocytic malformation.

[^]
16.

BASSEN FA et al. (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

[^]
17.

Steinberg D et al. (1979) Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia.

[^]
18.

Huang LS et al. (1990) Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.

[^]
19.

Lee J et al. (2014) Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

[^]
20.

Dullaart RP et al. (1986) Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia.

[^]
21.

Ross RS et al. (1988) Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

[^]
22.

Wei CF et al. (1985) Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.

[^]
23.

Blackhart BD et al. (1986) Structure of the human apolipoprotein B gene.

[^]
24.

Huang LS et al. (1985) Human apolipoprotein B cDNA clone isolation and demonstration that liver apolipoprotein B mRNA is 22 kilobases in length.

[^]
25.

Glickman RM et al. (1979) Immunofluorescence studies of apolipoprotein B in intestinal mucosa. Absence in abetalipoproteinemia.

[^]
26.

Lackner KJ et al. (1986) Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia.

[^]
27.

Herbert PN et al. (1985) Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis.

[^]
28.

Dische MR et al. (1970) The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings.

[^]
29.

Dodge JT et al. (1967) Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).

[^]
30.

Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.

[^]
31.

Sniderman A et al. (1980) Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins].

[^]
32.

Muller DP et al. (1982) Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.

[^]
33.

Harding AE et al. (1982) Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome.

[^]
34.

Illingworth DR et al. (1980) Abetalipoproteinemia. Report of two cases and review of therapy.

[^]
35.

Muller DP et al. (1977) Long-term management of abetalipoproteinaemia. Possible role for vitamin E.

[^]
36.

Raabe M et al. (1998) Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

[^]
37.

Braegger CP et al. (1998) Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.

[^]
38.

Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

[^]
39.

Sherva R et al. (2007) Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families.

[^]
40.

Fazio S et al. (1991) A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene.

[^]
41.

Pisciotta L et al. (2012) Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

[^]
42.

Martín-Campos JM et al. (2012) Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.

[^]
43.

Noto D et al. (2012) Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

[^]
44.

Minicocci I et al. (2012) Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

[^]
Update: Sept. 26, 2018