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hypobetalipoproteinemia

Genetics: - autosomal dominant - associated with defects in apoB (type 1) [1] Clinical manifestations: - presentation may vary from asymptomatic to severe GI & neurological dysfunction similar to abetalipoproteinemia - generally milder condition than abetalipoproteinemia - fat malabsorption Laboratory: - low LDL cholesterol

General

beta lipoprotein deficiency

Database Correlations

OMIM 107730 MORBIDMAP 107730

References

  1. OMIM :accession 107730