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abetalipoproteinemia (Bassen-Kornzweig syndrome)
Epidemiology: rare disorder
Pathology:
1) acanthocytosis
2) biopsy shows fat-laden mucosal cells in well-formed villi
3) virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein)
4) much of the pathology may be due to fat-soluble vitamin deficiency
Genetics:
1) autosomal recessive
2) associated with defects in MTTP gene
Clinical manifestations:
1) fat malabsorption
a) fat-soluble vitamin deficiency
- vitamin A deficiency
- vitamin D deficiency
- vitamin E deficiency
- vitamin K deficiency
b) steatorrhea
2) neuromuscular abnormalities, spinocerebellar degeneration
3) mental retardation
4) retinitis pigmentosa
5) fat soluble vitamin deficiencies
- vitamin E, vitamin A, vitamin D
Laboratory:
1) decreased serum cholesterol & LDL cholesterol
2) absence of apolipoprotein B, chylomicrons, VLDL & LDL
Management:
1) dietary modification
a) restriction of long-chain fatty acids to 15 g per day
b) supplementation with medium-chain triglycerides may be necessary
- monitor closely to avoid liver toxicity.
2) fat-soluble itamin supplementation [5]
a) vitamin E (100-300 mg/kg/day)
b) vitamin A (10,000-25,000 IU/day)
3) consults
a) gastroenterologist
b) ophthalmologist
c) neurologist
d) nutritionist
Notes:
- distinguish from familial dysbetalipoproteinemia
Related
low density lipoprotein (LDL, beta-lipoprotein)
General
beta lipoprotein deficiency
Database Correlations
OMIM 200100
References
- Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia,
PA. 1991, pg 210
- OMIM :accession 200100
- Wilipedia: Abetalipoproteinemia
http://en.wikipedia.org/wiki/Abetalipoproteinemia
- Genetic and Rare Diseases Information Center (GARD)
Abetalipoproteinemia
http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1
- Singh VN and Griffing GT
eMedicine: Low LDL Cholesterol (Hypobetalipoproteinemia)
http://emedicine.medscape.com/article/121975-overview