Bassen-Kornzweig syndrome

external

• Synonyms

  • Abetalipoproteinaemia

• Causes

  • MTTP gene mutation

• Effects

  • Malabsorption state
  • Retinitis pigmentosa
  • Acanthocytosis60.0%
  • Cerebellar ataxia
  • Vitamin E deficiency

• Parents

  • Autosomal recessive congenital metabolic disease

• Description

  • "100 cases worldwide cannot make beta lipoprotein required for absorption of dietary fats
  • cholesterol
  • and fat-soluble vitamins. MTTP gene mutation"