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Updated: Jun 13, 2026

Aip1p Dynamics Are Altered by the R256H Mutation in Actin
Published on: July 30, 2014
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation
Nuray Uslu1, Figen Gürakan, Aysel Yüce
1Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Abstract:
Abetalipoproteinemia (ABL) is a rare autosomal disorder characterized by extremely low levels of plasma lipids and apolipoprotein B (apoB) with a variable phenotype. Mutations in the MTP gene encoding the microsomal triglyceride transfer protein (MTP) cause the disease. A five-month-old boy, born from consanguineous parents, with chronic diarrhea and severe malnutrition had extremely low plasma lipids and apoB levels suggesting the diagnosis of ABL. He was not responsive to treatment with low-fat diet and fat-soluble vitamins and died at 13 months of age with severe malnutrition. Analysis of the MTP gene showed that he was homozygous for a two nucleotide deletion in exon 4 (c.398-399delAA) expected to cause a frameshift in the mRNA leading to a premature termination codon. The normolipidemic proband's parents were found to be heterozygous for the mutation. This observation underscores that in some cases, ABL can be extremely severe from early post-natal life and poorly responsive to treatment.
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