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Article

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Journal of inherited metabolic disease - 1 May 2014

Lee Jooho, Hegele Robert A

Abstract excerpt

Abetalipoproteinemia (ABL; OMIM 200100) and homozygous hypobetalipoproteinemia (HHBL; OMIM 107730) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein (apo) B-containing lipoprotein...

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Source

Identifiers

PMID: 24288038
DOI: 10.1007/s10545-013-9665-4

Genes

APOB
MTTP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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