Persistent transaminase elevation due to heterozygous (familial) apolipoprotein B deficiency

Indian J Gastroenterol. 1997 Oct;16(4):158-9.

Abstract

Homozygous apolipoprotein B deficiency can present with fatty liver and raised levels of transaminases. Subjects with heterozygous deficiency are almost always asymptomatic. We report an asymptomatic 26-year-old man with persistently raised transaminases, in whom the diagnosis of heterozygous (familial) apolipoprotein B deficiency was made on the basis of characteristic lipid profile.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Apolipoproteins B / deficiency*
  • Apolipoproteins B / genetics
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Genes, Dominant
  • Heterozygote*
  • Humans
  • Hypobetalipoproteinemias / diagnosis
  • Hypobetalipoproteinemias / enzymology
  • Hypobetalipoproteinemias / genetics*
  • Lipids / blood
  • Liver Function Tests
  • Male
  • Transaminases / blood*

Substances

  • Apolipoproteins B
  • Lipids
  • Transaminases