Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.

ABSTRACT: 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 vitamins leading to multisystem involvement of which neurological complications are the most serious. We present 3 siblings with ABL who were born to non-consanguineous parents of Filipino and Chinese background. Identical twin boys with long-standing failure to thrive and malabsorption were diagnosed at age 2 years. ABL therapy with vitamins and a specialized diet was initiated, replacing total parenteral nutrition at age 3 years. Their younger sister was diagnosed from a blood sample take

SUBMITTER: Vlasschaert C 

PROVIDER: S-EPMC8182224 | biostudies-literature | 2021 Jan-Dec

REPOSITORIES: biostudies-literature