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

doi:10.1177/23247096211022484

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Article

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

Journal of investigative medicine high impact case reports - 1 Jan 2000

Vlasschaert Caitlyn, McIntyre Adam D, Thomson Lauren A, Kennedy Brooke A, Ratko Suzanne, Prasad Chitra, Hegele Robert A

Abstract excerpt

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...

Topics

Abetalipoproteinemia
Child, Preschool
Humans
Infant, Newborn
Male
Mutation
Siblings
Thymine Nucleotides
Vitamin A

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Identifiers

PMID: 34078172
DOI: 10.1177/23247096211022484
PMCID: PMC8182224

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