title: 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.affiliation: Jaslok Hospital and Research Center, Mumbai.
authors.forename: N N
authors.initials: NN
authors.lastname: Mehta
authors.forename: H G
authors.initials: HG
authors.lastname: Desai
mesh_terms: D000328:Adult; D001055:Apolipoproteins B / Q000172:deficiency* / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008111:Liver Function Tests; D008297:Male; D000637:Transaminases / Q000097:blood*
chemical_list: D001055:Apolipoproteins B; D008055:Lipids; D000637:Transaminases