Abetalipoproteinemia (Noun)
Meaning
A rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels.
Classification
Nouns denoting natural processes.
Examples
- The patient was diagnosed with abetalipoproteinemia, a rare genetic disorder that affects the body's ability to absorb and process fats.
- Abetalipoproteinemia is characterized by a severe deficiency of beta-lipoproteins, which are essential for the transport of fats and fat-soluble vitamins in the bloodstream.
- The symptoms of abetalipoproteinemia include severe gastrointestinal problems, muscle weakness, and neurological disorders due to the impaired absorption of essential nutrients.
- Individuals with abetalipoproteinemia often have abnormally low cholesterol levels and abnormal red blood cells, known as acanthocytes, which can be detected through blood tests.
- Early diagnosis and treatment of abetalipoproteinemia are crucial to prevent long-term complications and improve the quality of life for affected individuals.