Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.
We report on acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurological complications of this condition. However, the acanthocytosis - literally 'thorny' erythrocytes that result from abnormal membrane fluidity - persists despite treatment.
Hegele
R A
RA
John P. Robarts Research Institute, London, Ontario, Canada. robert.hegele@rri.on.ca
Miskie
B A
BA
D000050:Acanthocytes / Q000473:pathology*; D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics*; D002819:Chorea / Q000235:genetics*; D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000378:metabolism; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000150:complications* / Q000235:genetics*; D009154:Mutation
D001055:Apolipoproteins B