Abetalipoproteinemia Due to a Novel Splicing Variant in in 3 Siblings

• Main Authors: Caitlyn Vlasschaert MD, MSc (Author), Adam D. McIntyre BSc (Author), Lauren A. Thomson BSc (Author), Brooke A. Kennedy BSc (Author), Suzanne Ratko RD (Author), Chitra Prasad MD, FRCPC, FCCMG (Author), Robert A. Hegele MD, FRCPC, FACP (Author)
• Format: Book
• Published: SAGE Publishing, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abetalipoproteinemia (ABL) is a rare recessive condition caused by biallelic loss-of-function mutations in the MTTP gene encoding the microsomal triglyceride transfer protein large subunit. ABL is characterized by absence of apolipoprotein B-containing lipoproteins and deficiencies in fat-soluble vi...