Abetalipoproteinemia

Also known as: Bassen–Kornzweig syndrome

Absence of apoB-containing lipoproteins with fat malabsorption and neuropathy.

Medical specialty: Cardiology
Subspecialty: Cardiology / Preventive cardiology and lipidology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: MTTP

Etiology & mechanism

Microsomal triglyceride transfer protein deficiency.

Gene(s) involved (1)

MTTP

Symptoms & signs (7)

acanthocytosisataxiafat-soluble vitamin deficiencyneuropathyretinitis pigmentosasteatorrheavery low ldl

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.