Abetalipoproteinemia - StatPearls - NCBI Bookshelf
2023年7月31日 · Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder marked by low or absent levels of plasma cholesterol, low-density lipoproteins (LDLs), and very-low-density lipoproteins (VLDLs). It should not be confused with a deficiency in beta-lipoproteins.
Abetalipoproteinemia - Wikipedia
Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome [2]) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. [3]
Abetalipoproteinemia: Symptoms, Causes & Treatment
2024年8月22日 · Abetalipoproteinemia (pronounced “a-ba-tah-lip-o-pro-te-ne-me-ah”) is a rare genetic disorder that affects your body’s ability to absorb fat and certain vitamins from food. If you have abetalipoproteinemia, your body can’t produce certain molecules called lipoproteins.
Abetalipoproteinemia - Symptoms, Causes, Treatment | NORD
2023年2月17日 · Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins.
Abetalipoproteinemia - Symptoms, diagnosis and treatment ...
2024年10月24日 · Abetalipoproteinemia is a rare genetic disorder caused by impaired transport of intestinal and hepatic lipids that typically presents in the first few months of life with symptoms of faltering growth and steatorrhea.
Abetalipoproteinemia Symptoms and Treatment - Verywell Health
2022年5月25日 · Abetalipoproteinemia (also known as Bassen-Kornzweig syndrome) is an inherited disorder that affects how fats are made and used in the body. Our bodies need fats in order to maintain healthy nerves, muscles, and digestion.
Abetalipoproteinemia - GeneReviews® - NCBI Bookshelf
2018年10月25日 · Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia.