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: Symptoms, Causes & Treatment - Cleveland Clinic
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 - 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, 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: MedlinePlus Genetics
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K).
Abetalipoproteinemia Symptoms and Treatment - Verywell Health
2024年12月5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.
Current Diagnosis and Management of Abetalipoproteinemia
Abetalipoproteinemia (ABL; OMIM 200100) is a rare inherited disease characterized by the absence of plasma apolipoprotein (apo) B-containing lipoproteins and fat-soluble vitamins in the plasma.
Abetalipoproteinaemia (Concept Id: C0000744) - National Center …
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.
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