Skip to Content

abetalipoproteinemia

Pronunciation: ā-bā′tă-lip′ō-prō′tēn-ē′mē-ă

Definition: A disorder characterized by an absence of low-density β-lipoprotein, presence of acanthocytes in blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance, caused by mutation in the gene-encoding microsomal triglyceride transfer protein (MTP) on chromosome 4q.

Synonym(s): Bassen-Kornzweig syndrome

[G. a-, priv., + β, + lipoprotein + -emia, blood]

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide