Clinical utility gene card for: Abetalipoproteinaemia – Update 2014

Burnett, John R.; Bell, Damon A.; Hooper, Amanda J.; Hegele, Robert A.

doi:10.1038/ejhg.2014.224

Cited by 12 publications

(34 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Deficiency of fat soluble vitamins results from impaired vitamin absorption and transport and underlies most of the systemic manifestations. 8 Homozygous FHBL is phenotypically similar to abetalipoproteinemia, except that obligate heterozygote FHBL parents have approximately one-third plasma concentration of LDL-cholesterol and apoB, whereas obligate heterozygote parents of abetalipoproteinemia patients have normal lipid profiles. 8 Family-based serological studies identified APOB as the likely causative gene in FHBL, 10 whereas family-based molecular and candidate gene studies mapped MTTP as the causative gene for abetalipoproteinemia.…”

Section: Circ Cardiovasc Genetmentioning

confidence: 99%

“…8 Homozygous FHBL is phenotypically similar to abetalipoproteinemia, except that obligate heterozygote FHBL parents have approximately one-third plasma concentration of LDL-cholesterol and apoB, whereas obligate heterozygote parents of abetalipoproteinemia patients have normal lipid profiles. 8 Family-based serological studies identified APOB as the likely causative gene in FHBL, 10 whereas family-based molecular and candidate gene studies mapped MTTP as the causative gene for abetalipoproteinemia. 11 Treatment for both conditions includes lifelong dietary fat restriction and large doses of oral fat soluble vitamins.…”

Section: Circ Cardiovasc Genetmentioning

confidence: 99%

“…8 Fat content of hepatocytes and enterocytes is increased. Deficiency of fat soluble vitamins results from impaired vitamin absorption and transport and underlies most of the systemic manifestations.…”

Section: Circ Cardiovasc Genetmentioning

confidence: 99%

“…6,7 Targets of the MTP inhibitor and apoB antisense agent were identified >20 years ago by mapping the causative genes in families with extreme syndromic LDL deficiency states, namely abetalipoproteinemia and homozygous familial hypobetalipoproteinemia (FHBL), respectively. 8 The development programs for both agents have been complicated. Both drugs reduce LDL in relative terms, but each has adverse effects: steatorrhea and hepatic fat accumulation for lomitapide, and injection site reactions and systemic flu-like symptoms in the case of mipomersen.…”

Section: Article See P 677mentioning

confidence: 99%

“…8 Abetalipoproteinemia is characterized by the absence of plasma apoB-containing lipoproteins, including chylomicrons, very low density lipoprotein, and LDL, together with systemic findings, such as fat malabsorption, abnormal red blood cells (acanthocytosis), prolonged prothrombin time (high international normalized ratio), atypical retinitis…”

Section: Abetalipoproteinemiamentioning

confidence: 99%

See 4 more Smart Citations

Finding the Therapeutic Sweet Spot

Burnett

Hegele

2015

Circ Cardiovasc Genet

View full text Add to dashboard Cite

Section: Circ Cardiovasc Genetmentioning

confidence: 99%

Section: Circ Cardiovasc Genetmentioning

confidence: 99%

Section: Circ Cardiovasc Genetmentioning

confidence: 99%

Section: Article See P 677mentioning

confidence: 99%

Section: Abetalipoproteinemiamentioning

confidence: 99%

See 3 more Smart Citations

Finding the Therapeutic Sweet Spot

Burnett

Hegele

2015

Circ Cardiovasc Genet

View full text Add to dashboard Cite

Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia

et al. 2015

View full text Add to dashboard Cite

Background: Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare inherited forms of hypolipidemia. Their differential diagnosis is important for predicting of the prognosis and selecting appropriate therapy.Materials and Methods: Genetic analysis was performed in two patients with primary hypocholesterolemia born from consanguineous parents. The oral fat tolerance test (OFTT) was performed in one patient with FHBL (apoB-87.77) and one with ABL as well as in four normal control subjects. After overnight fasting, blood samples were drawn. Serum lipoprotein and remnant-like particle (RLP) fractions were determined by HPLC analysis.Results: Both patients with homozygous FHBL were asymptomatic probably because of preserved levels of fatsoluble vitamins, especially vitamin E. The patients with FHBL were homozygous because of novel apoB-83.52 and apoB-87.77 mutations, and although one of them (apoB-87.77) had fatty liver disease, microscopic findings suggesting nonalcoholic steatohepatitis were absent. Fasting apoB-48 and RLP-triglyceride levels in the patient with homozygous FHBL, which were similar to those in normal control subjects, increased after OFTT both in normal control subjects and the patient with FHBL but not in the patient with ABL, suggesting that the fat load administered was absorbed only in the patient with FHBL.Conclusion: Although lipid levels in the patients with homozygous FHBL and ABL were comparable, fasting, postoral fat loading of apoB-48, as well as RLP-triglyceride

show abstract

Malabsorption and Malnutrition Disorders

2019

Surgical Pathology of Non-Neoplastic Gastrointestinal Diseases

View full text Add to dashboard Cite

Clinical utility gene card for: Abetalipoproteinaemia – Update 2014

Cited by 12 publications

References 9 publications

Finding the Therapeutic Sweet Spot

Finding the Therapeutic Sweet Spot

Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia

Malabsorption and Malnutrition Disorders

Contact Info

Product

Resources

About