Abetalipoproteinemia

Definition:

Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins.

References:

[1]. N Berriot-Varoqueaux, et al. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. Annu Rev Nutr. 2000;20:663-97. [Content Brief]

[2]. Rola Zamel, et al. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008 Jul 8;3:19. [Content Brief]

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