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