Hypobetalipoproteinemia
Encyclopedia
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B
, below the 5th percentile. The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.
Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a low cholesterol level may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease.
.
Another form is associated with microsomal triglyceride transfer protein
which causes abetalipoproteinemia
.
A third form, chylomicron retention disease
(CRD), is associated with SARA2.
Apolipoprotein B
Apolipoprotein B is the primary apolipoprotein of low-density lipoproteins , which is responsible for carrying cholesterol to tissues. While it is unclear exactly what functional role APOB plays in LDL, it is the primary apolipoprotein component and is absolutely required for its formation...
, below the 5th percentile. The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.
Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a low cholesterol level may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease.
Causes
One form is thought to be caused by mutated apolipoprotein BApolipoprotein B
Apolipoprotein B is the primary apolipoprotein of low-density lipoproteins , which is responsible for carrying cholesterol to tissues. While it is unclear exactly what functional role APOB plays in LDL, it is the primary apolipoprotein component and is absolutely required for its formation...
.
Another form is associated with microsomal triglyceride transfer protein
Microsomal triglyceride transfer protein
Microsomal triglyceride transfer protein large subunit is a protein that in humans is encoded by the MTTP gene.Apoprotein B48 on chylomicra and Apoprotein B100 on LDL, IDL, and VLDL are important for MTP binding.-Interactive pathway map:...
which causes abetalipoproteinemia
Abetalipoproteinemia
Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
.
A third form, chylomicron retention disease
Chylomicron retention disease
Chylomicron retention disease is a disorder of fat absorption.It is associated with SAR1B....
(CRD), is associated with SARA2.