abetalipoproteinemia
Also known as familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency disease, Bassen-Kornzweig Syndrome, Microsomal Triglyceride Transfer Protein Deficiency, Bassen-Kornzweig disease, Homozygous familial hypobetalipoproteinemia, Mtp Deficiency
rara malattia metabolica ereditaria, a trasmissione autosomica recessiva, causata dal deficit di una proteina
Key facts
- Medical condition (new).name
- Abetalipoproteinemia
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- Abetalipoproteinemia_-_very_high_mag.jpg
- Medical condition (new).caption
- Micrograph showing enterocytes with a clear cytoplasm (due to lipid accumulation) characteristic of abetalipoproteinemia. Duodenal biopsy. H&E stain.
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- 175
- Medical condition (new).synonyms
- Bassen-Kornzweig syndrome
via Wikipedia infobox
Research
790 papers- Abetalipoproteinemia.Annual review of medicine · 1972
- Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.Current opinion in lipidology · 2020
- Current Diagnosis and Management of Abetalipoproteinemia.Journal of atherosclerosis and thrombosis · 2021
Article · Italiano
L'abetalipoproteinemia è una rara malattia metabolica ereditaria, a trasmissione autosomica recessiva, causata dal deficit di una proteina, la MTP (microsomal triglyceride transfer protein) che, trasportando trigliceridi, fosfolipidi ed esteri del colesterolo nel reticolo endoplasmatico, è essenziale nella sintesi dei chilomicroni e delle VLDL. Questo disordine interferisce con il normale assorbimento dei lipidi e delle vitamine liposolubili assunti con la dieta.
Abstract from DBpedia / Wikipedia · CC BY-SA