Hypobetalipoproteinemias

Hypobetalipoproteinemier

Svensk definition

Ett sjukdomstillstånd kännetecknat av att halterna av lågviktslipoprotein (beta-lipoprotein) är långt under normal nivå.

Engelsk definition

Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Familial Hypobetalipoproteinemia Hypo beta Lipoproteinemia Hypo beta Lipoproteinemias Hypobetalipoproteinemia