Hypobetalipoproteinemias

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.

Also Known As:

Hypobetalipoproteinemia; Familial Hypobetalipoproteinemia; Hypo beta Lipoproteinemia; Hypo beta Lipoproteinemias

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypobetalipoproteinemias: 272
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypobetalipoproteinemias: 272
  - Lipid Metabolism Disorders: 898
    - Dyslipidemias: 18198
      - Hypolipoproteinemias: 24
        Hypobetalipoproteinemias: 272
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypobetalipoproteinemias: 272

Nguyen syndrome

Disease Context: Research Results