A rare genetic disorder resulting in disruption of cellular fat transport that typically presents in the first few months of life with symptoms of failure to thrive, diarrhoea, and steatorrhoea.
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, and K can lead to clinical symptoms and neurological deterioration.
When treated, 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.
Abetalipoproteinaemia is a rare, inherited, autosomal-recessive disorder resulting from a microsomal triglyceride transfer protein deficiency. As a result, cellular fat transport is disrupted, causing symptoms of fat malabsorption (i.e., steatorrhoea, diarrhoea) and eventual wasting, which often present by infancy or childhood. Fats, cholesterol, and fat-soluble vitamins such as A, E, and K are poorly absorbed, leading to dietary deficiency. If discovered early and treated, nutrition may be improved and sequelae prevented. If untreated, clinical findings of vitamin E deficiency result from degeneration of the spinocerebellar and dorsal columns tracts. Irreversible effects include ataxia, peripheral neuropathy, and retinal degeneration.
History and exam
Other diagnostic factors
- age 0 to 12 years
- low weight
- muscle weakness
- muscle contractions
- loss of deep tendon reflexes
- night blindness
- poor eyesight
- pale skin
- optic disc swelling
- consanguineous parents
1st investigations to order
- fasting lipid panel
- vitamin A, E, K blood levels
- blood smear
- microsomal triglyceride transfer protein (MTTP) analysis
- apo B and MTTP genetic testing
Investigations to consider
- stool smear
- (aPTT) PTT
- serum iron levels
- liver transaminases
- intestinal biopsy
- direct or indirect ophthalmoscope
- electromyelogram (EMG)
- evoked potential electrodiagnostic test
- nerve conduction study
David Alexander Leaf, MD, MPH
Professor of Medicine
UCLA School of Medicine
DAL declares that he has no competing interests.
David Muller, PhD
Emeritus Professor of Biochemistry
UCL Institute of Child Health
DM is a co-author of an article referenced in this monograph. He has previously received research funding from F Hoffmann-La Roche and Co Ltd for research studies on vitamin E.
Katherine Wu, MD
Associate Professor of Medicine
Division of Cardiology
Johns Hopkins Medical Institutions
KW declares that she has no competing interests.
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