A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the <i>MTTP</i> Gene without Fat or Vitamin Malabsorption
Kei Sasaki,
Hayato Tada,
Tomohiro Komatsu
et al.
Abstract:Abetalipoproteinemia (ABL) is a rare disease characterized by extremely low apolipoprotein B (apoB)containing lipoprotein levels, dietary fat, and fat-soluble vitamin malabsorption, leading to gastrointestinal, neuromuscular, and ophthalmological symptoms. We herein report a case of ABL with novel compound heterozygous mutations in the microsomal triglyceride transfer protein gene (c.1686_1687del [p. Ser563TyrfsTer10] and c.1862T>C [p.Ile621Thr]), identified via panel sequencing. Although the patient had extre… Show more
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