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Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation
Author(s) -
Hegele RA,
Miskie BA
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.610204.x
Subject(s) - apolipoprotein b , mutation , splice site mutation , rna splicing , medicine , endocrinology , genetics , splice , gene , biology , cholesterol , rna
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.