What is abetalipoproteinemia (ABL)?

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Answer

ABL is a rare disease associated with a unique plasma lipoprotein profile in which LDL and very low-density lipoprotein (VLDL) are essentially absent. The disorder is characterized by fat malabsorption, spinocerebellar degeneration, acanthocytic red blood cells, and pigmented retinopathy. It is caused by a homozygous autosomal recessive mutation in the gene for microsomal triglyceride transfer protein (MTP). MTP mediates intracellular lipid transport in the intestine and liver and thus ensures the normal function of chylomicrons (CMs) in enterocytes and of VLDL in hepatocytes. [3]

Affected infants may appear normal at birth, but by the first month of life, they develop steatorrhea, abdominal distention, and growth failure. Children develop retinitis pigmentosa and progressive ataxia, with death usually occurring by the third decade. Early diagnosis, high-dose vitamin E (tocopherol) therapy, and medium-chain fatty acid dietary supplementation may slow the progression of the neurologic abnormalities. Obligate heterozygotes (ie, parents of patients with ABL) have no symptoms and no evidence of reduced plasma lipid levels.


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