This condition is inherited in an autosomal recessive manner. This means that for the child to manifest the disease, they must inherit two abnormal alleles.
This condition is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies of apolipoprotein B-48 and apolipoprotein B-100. These proteins are used in the synthesis and transportation of chylomicrons and VLDL, respectively.
Mutation in microsomal triglyceride transfer protein (MTTP) is inherited in an autosomal recessive manner and results in the deficiency of apolipoprotein B-48 and apolipoprotein B-100.
Malabsorption is defined as an abnormal absorption of nutrients in the gastrointestinal tract. Malabsorption of fat and fat-soluble vitamins (vitamins A, D, E, K) is particularly pronounced in patients with abetalipoproteinemia.
Steatorrhea is characterized by the excretion of abnormal quantities of fat with feces owing to reduced absorption of fat by the intestines. This is common in patients with abetalipoproteinemia due to the malabsorption of fat and fat-soluble vitamins (A, D, E, K).
Infants with this condition often present with failure to thrive because of malabsorption of fat-soluble vitamins and calories.
Ataxia is one of the possible manifestations of abetalipoproteinemia.
Retinitis pigmentosa is a group of genetic disorders that involves a breakdown and loss of cells in the retina. Common symptoms include difficulty seeing at night (nyctalopia) and a loss of peripheral vision. This condition is associated with abetalipoproteinemia.
Spinocerebellar degeneration is one of the late manifestations of abetalipoproteinemia; this can lead to balance problems and ataxia.
Intestinal biopsy can be used for the confirmation of the diagnosis and reveals lipid-laden enterocytes.
Acanthocytes are abnormal red blood cells that have spiked cell membranes made up of thorny projections and are frequently found on peripheral blood smears of patients with abetalipoproteinemia. Acanthocytes can also be seen in patients with severe liver dysfunction and malnutrition.
Due to the severe fat malabsorption, this condition is characterized by decreased levels of plasma cholesterol (< 30 mg/dl) and undetectable levels of LDL.
Large doses of oral vitamin E and restriction of long-chain fatty acids in the diet are used in the treatment of this condition.
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