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Abetalipoproteinemia
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Medical condition
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Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein...

Instance of
developmental defect during embryogenesis
designated intractable/rare disease
Rare disease
class of disease
Signs and symptoms
Genetic disorder
Subclass of
Hypolipoproteinemia
autosomal recessive metabolic cerebellar ataxia
metabolic disease with dementia
metabolic disease with intestinal involvement
Hypobetalipoproteinemia
neurometabolic disease
developmental anomaly of metabolic origin
syndromic dyslipidemia
constitutional hemolytic anemia due to acanthocytosis
rare hereditary metabolic disease with peripheral neuropathy
metabolic disease with pigmentary retinitis
intestinal disease due to fat malabsorption
Genetic disorder
autosomal recessive disease
Disease
Wikidata