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

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.
AuthorsN N Mehta, H G Desai
JournalIndian journal of gastroenterology : official journal of the Indian Society of Gastroenterology (Indian J Gastroenterol) Vol. 16 Issue 4 Pg. 158-9 (Oct 1997) ISSN: 0254-8860 [Print] INDIA
PMID9357195 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Apolipoproteins B
  • Lipids
  • Transaminases
  • Adult
  • Apolipoproteins B (deficiency, genetics)
  • Chromosome Aberrations (genetics)
  • Chromosome Disorders
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Hypobetalipoproteinemias (diagnosis, enzymology, genetics)
  • Lipids (blood)
  • Liver Function Tests
  • Male
  • Transaminases (blood)

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