Abetalipoproteinaemia

Abetalipoproteinaemia is a rare, inherited genetic disorder of lipoprotein (a protein that combines with fats or other lipids) metabolism.

It is inherited in an autosomal recessive manner and is characterized by malabsorption of fats, acanthocytosis (distorted red blood cells), retinopathy (disease of the retina), ataxia (incoordination and clumsiness), slurred speech, muscle weakness, curvature of the spine, neuropathy (peripheral nerve disease), fatty stools, diarrhoea, and failure to thrive in infancy.

Treatment with high doses of fat soluble vitamins (vitamin A, vitamin D, vitamin E, and vitamin K) may slow the progression of certain abetalipoproteinaemia- related problems such as retinal degeneration.