Highlights & Basics
- Abetalipoproteinemia is a rare genetic disorder caused by impaired transport of intestinal and hepatic lipids that typically presents in the first few months of life with symptoms of faltering growth and steatorrhea.
- Diagnosis is often missed due to vague symptoms more common to diseases such as viral gastroenteritis or child abuse sequelae.
- If untreated, the disorder is progressive. Deficiency of fat-soluble vitamins such as A, E, D, and K can lead to clinical symptoms and neurologic deterioration.
- When treated early with high doses of vitamin E, sequelae such as retinal degeneration or ataxia may be prevented.
- Nutritional repletion, including a low-fat diet and ingestion of fat-soluble vitamins, is essential in management.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Citations
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Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014 May;37(3):333-9.[Abstract]
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