An uncommon and hereditary genetic disorder affecting the metabolism of lipoprotein, a protein responsible for binding with fats and lipids, manifests in a recessive autosomal manner. This condition is distinguished by the impaired absorption of fats, the presence of distorted red blood cells known as acanthocytosis, retinopathy which pertains to retinal afflictions, ataxia causing lack of coordination and clumsiness, slurred speech, muscle weakness, spinal curvature, neuropathy which refers to peripheral nerve damage, fatty stools, persistent diarrhea, and failure to thrive during infancy.
Administration of elevated doses of fat-soluble vitamins, including vitamin A, vitamin D, vitamin E, and vitamin K, has shown potential in decelerating the advancement of specific complications associated with abetalipoproteinemia, such as retinal degeneration.