abetalipoproteinemia

Meaning

A rare inherited disorder characterized by the body's inability to produce or transport specific lipoproteins, resulting in a deficiency of essential fats and fat-soluble vitamins.

Examples

• Patients diagnosed with abetalipoproteinemia require lifelong supplementation of vitamins A, D, E, and K.
• The clinical presentation of abetalipoproteinemia often includes neurological issues and vision problems due to severe vitamin E deficiency.