Abetalipoproteinemia
Disease overview
Rare autosomal recessive disorder characterized by the inability to form chylomicrons and very-low-density lipoproteins due to a deficiency of apolipoprotein B (apoB). This deficiency leads to fat malabsorption, low serum cholesterol, and deficiencies in fat-soluble vitamins.
Common symptoms
Diagnosis
- Genetic testing for mutations in the MTTP gene
- Physical exam
- Blood tests
Treatment
Dietary modifications and vitamin supplementation
treatment
Goal is prevention of secondary comorbidities due to fat and vitamin malabsorption
treatment
No specific physicians specialize in this condition, often managed by pediatrics and GI. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Recruiting clinical trials
Completed clinical trials
Sources
Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins...
This study will determine whether short term intravenous infusion of vitamins A and E in patients with abetalipoproteinemia can reverse disease symptoms...
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