Bassen-Kornzweig syndrome is caused by changes in the MTTP gene that tells the body to create lipoproteins (molecules of fat combined with protein). These variants make it hard for the body to properly digest fat and essential vitamins.
Sep 18, 2023
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Oct 25, 2018 · The disorder affects males and females equally. Nomenclature. Abetalipoproteinemia was initially named Bassen-Kornzweig syndrome. Prevalence.
Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver.
Aug 1, 2015 · Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with protein ) ...
Abetalipoproteinemia is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal ...
'The sum of evidence at this time is that the erythrocyte defect in the Bassen-Kornzweig syn- drome is an intrinsic structural disorganization of the membrane ...
A neuromuscular disorder resembling Friedreich's ataxia, associated with steatorrhea, acanthocytosis, retinitis pigmentosa, and a disorder of lipid metabolism.
Feb 1, 2018 · Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet.
Bassen-Kornzweig syndrome or abetalipoproteinemia is a rare autosomal recessive disorder characterized by a malabsorption of dietary fat and fat-soluble ...
Nov 8, 2015 · Patients develop spinocerebellar ataxia, areflexia, and weakness, accompanying a diffuse neuromuscular disease that resembles Friedreich ataxia.
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