Information displayed below is a subset of the entire knowledge base and may be incorrect, or incomplete intensionally or inadvertently. If you detect a serious error or want access to the complete knowledge base, please contact us.

Description

Beta lipoproteinemia is a rare inherited disorder that affects the body's ability to process fats (lipids) in the blood. It is caused by a mutation in the gene that codes for the enzyme lecithin-cholesterol acyltransferase (LCAT). This enzyme is responsible for converting cholesterol into a form that can be used by the body. People with beta lipoproteinemia have a deficiency of LCAT, which leads to an accumulation of cholesterol in the blood. Symptoms of beta lipoproteinemia include high levels of cholesterol in the blood, an increased risk of heart disease, and an increased risk of stroke. Treatment typically involves lifestyle changes such as diet and exercise, as well as medications to lower cholesterol levels.

Synonyms

• abetalipoproteinemia
• acanthocytosis
• apolipoprotein B deficiency
• Bassen-Kornzweig syndrome
• LDL deficiency
• low-density lipoid deficiency
• microsomal triglyceride transfer protein deficiency
• MTP deficiency

Basic Lab Tests (measurements)

• plasma
  •      prothrombin time
• serum
  •      LDL-cholesterol
  •      VLDL-cholesterol
  •      apolipoprotein A-IV
  •      carotene
  •      cholesterol
  •      vitamin E
  •      low-density lipoprotein
  •      very-low-density lipoprotein
  •      apolipoprotein A-I
  •      apolipoprotein B-48
  •      bilirubin
  •      apolipoprotein A
  •      apolipoprotein B-100
  •      direct bilirubin
  •      phospholipids
  •      vitamin A
  •      alanine aminotransferase
  •      Lp(a)
  •      apolipoprotein B
  •      chylomicrons
  •      indirect bilirubin
  •      triglyceride
• urine
  •      protein
  •      bilirubin
• whole blood
  •      hemoglobin
  •      hematocrit
  •      poikilocytosis
  •      erythrocyte sedimentation rate
  •      acanthocytes
  •      reticulocytes

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: