From Ganfyd

Jump to: navigation, search

Abetalipoproteinaemia (OMIM:200100) is caused by severe forms of hypobetalipoproteinaemia due to defects in the APOB gene as well as defects in microsomal triglyceride transfer protein (MTP) gene at 4q22-q24. This later has the phenotype:

Clinical Picture

Lipid metabolism

  • Defective intestinal absorption of lipids
  • ↓↓ cholesterol
  • No beta lipoprotein

Oral vitamin A therapy may prevent the retinal problems and liver transplantation other problems