Журнал клинических случаев

Abetalipoproteinemia: Three Case Reports, a Novel Microsomal Triglyceride Transfer Protein Gene Mutation and a Literature Review

Abstract

Hasan M Isa and Afaf M Mohamed

Abetalipoproteinemia (ABL, OMIM 200100) is a very rare metabolic disease with reported prevalence of less than one case per 100,000. It is an autosomal recessive disease resulting from mutations in the gene encoding microsomal triglyceride transfer protein (MTP). Affected patients present with a wide range of clinical symptoms during infancy. Typical manifestations are failure to thrive, low level of cholesterol and fat malabsorption. Other features like fatty liver, acanthocytosis and anemia are usually present. Low fat diet and fat-soluble vitamins are the main stay of therapy. This is a retrospective review of three patients admitted to Salmaniya medical complex (SMC), Bahrain, with ABL. We presented the clinical presentations, diagnosis, response to medical therapy and outcome of these three infants along with a literature review about ABL. A novel MTP gene mutation, c.1508_1515delTGGCTACC (p.Leu503Hisfs*7, exon 11, MTTP), was detected. Two patients responded to dietary modifications and one deceased.