Abetalipoproteinemia is a rare disorder presenting in infancy or early childhood and affecting less than 1 in 1 million. It is characterized by the malabsorption of fats and lipid soluble vitamins resulting in hypocholesterolemia and vitamin deficiency. This is mainly caused by the improper packaging and secretion of apolipoprotein B-containing proteins. The disease can result in a failure to thrive, steatorrhia, developmental delay, spastic ataxia, neuropathy, retinal degeneration and hepatic steatosis.
The disease is diagnosed based on serum levels of lipids and fat soluble vitamins, absence of chylomicrons and VLDL in the plasma, acanthocytosis in blood films and presence of steatorrhic stools. Genetic testing to uncover a mutation in the MTP gene can confirm the diagnosis of abetalipoproteinemia. Treatment involves dietary therapy with reduced fat intake along with supplementation of medium chain triglycerides (MCT) and high doses of fat soluble vitamins.
Abetalipoproteinemia has been shown to follow an autosomal recessive pattern of inheritance and is associated with mutations in the MTP (microsomal triglyceride transfer protein) gene. MTP helps produce beta-lipoproteins as it catalyzes the transport of cholesteryl ester, phospholipid and triglyceride from phospholipid surfaces. About 33 different mutations have been mapped to the 4q23 gene locus resulting in the absence of the 97kDa large subunit of MTP.
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