The presence of minute amounts of apolipoprotein B in homozygous hypobetalipoproteinaemia suggests a secretion failure rather than a structural gene defect.
Supports secretion failure over structural defect in hypobetalipoproteinemia; single case report leaves mechanism unresolved.
A hypobetalipoproteinaemic kindred is described in which the proband manifested the clinical and biochemical features of the homozygous state. Unlike the apparent complete absence of apolipoprotein B in the plasma of the five cases of homozygous hypobetalipoproteinaemia reported so far, we were able to demonstrate minute quantities of this protein (approximately 0.025% of normal) in the plasma of the proband. This finding suggests that the disorder may not result from a structural gene defect but may rather reflect a failure of secretion.
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Berger et al. (1983) studied this question.
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