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

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.

• Authors: N N Mehta, H G Desai
• Journal: Indian 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
• PMID: 9357195 (Publication Type: Case Reports, Journal Article)

Chemical References

• Apolipoproteins B
• Lipids
• Transaminases

Topics

• 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)