hypobetalipoproteinemia

Genetics

• autosomal dominant
• associated with defects in apoB (type 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

More general terms

• beta lipoprotein deficiency

Database

• OMIM: https://mirror.omim.org/entry/107730