(ā-bā″tă-lĭp″ō-prō″tēn-ē′mē-ă)
[Pronunciation]
[Gr. a-, not, + beta + lipos, fat, + protos, first, + haima, blood]

An inherited disorder marked by an absence of beta lipoproteins in the blood and low levels of cholesterol, fatty acids, and chylomicrons.
The red blood cells have a thorny or spiked appearance (i.e., acanthocytosis). It is most often seen in Ashkenazi Jews. Symptoms include retinal macular degeneration and chronic progressive neurological deficits, which usually begin in childhood. Affected infants develop steatorrhea and growth retardation. Later clinical manifestations include ataxia; by adolescence, many patients are unable to walk. Vitamin E may be helpful in arresting the progression of neurological aspects.

SYN: Bassen-Kornzweig syndrome
See: acanthocyte