Disease Information for Hypobetalipoproteinemia

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Clinical Manifestations
Signs & Symptoms
Absent deep tendon reflexes
Mental Deficiency Child
Growth/development delay
Color blindness acquired/dimming
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Acanthocytes peripheral smear (Lab)
Abnormal Lab Findings - Decreased
Albumin, serum (Lab)
Cholesterol (Lab)
Chylomicrons (Lab)
LDL (Low density lipoprotein) (Lab)
Vitamin E (Tocopherol) (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Abetalipoproteinemia
Acanthocytosis
Hypoalbuminemia Hypoproteinemia
Malabsorption/Steatorrhea syndrome
Mental retardation
Vitamin E deficiency
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus 3p22
Pathophysiology/Gene locus 3p22-p21.1
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene locus Chromosome 3p
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lipid metabolism defect
Pathophysiology/Fat Malabsorption
Pathophysiology/Fat soluble Vitamin Malabsorption
Pathophysiology/Intestinal fat transport defect
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Biochemical (category)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Hypo beta lipoproteinaemia, Hypo beta Lipoproteinemia, Hypo beta lipoproteinemia (disorder), Hypo beta Lipoproteinemias, hypobetalipoproteinemia, Hypobetalipoproteinemias, Synonym/Anderson syndrome, Synonym/Chylomicron retention disease, Synonym/Dysbetalipoproteinemia, familial, Synonym/Familial hypobetalipoproteinemia
Definition

A disease in which the low density lipoprotein (beta-lipoprotein) concentrations are far below normal;

Intestinal fat transport defect with hypobetalipoproteinemia and accumulation of apolipoprotein B-like protein in intestinal cells, deficient blood apolipoproteins, and avitaminosis E manifested by malnutrition, steatorrhea, and growth and mental retardation. Some clinical (but not biochemical) manifestations may disappear later in life;

Biochemical and metabolic features: A lipid metabolism disorder associated with abetalipoproteinemia, hypoalbuminamia, failure of chylomicron formation, low blood cholesterol level, low blood apolipoprotein A and B, and avitaminosis E---[Jablonski/NIH archive 2007]----------------------------

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External Links Related to Hypobetalipoproteinemia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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