GTR Home > Conditions/Phenotypes > Abetalipoproteinaemia

Summary

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from GTR]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: ABL, MTP, MTTP
    Summary: microsomal triglyceride transfer protein

Clinical features

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Practice guidelines

  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
  • EuroGentest, 2012
    Clinical utility gene card for: Abetalipoproteinaemia

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