Abetalipoproteinemia is a disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein is deficient or absent in enterocytes. Clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea. Intellectual abilities may also be impaired.
Abetalipoproteinemia Symptoms
The list of signs and symptoms mentioned in various sources for Abetalipoproteinemia includes the 14 symptoms listed below:
* Absence of apoprotein B-100
* Acanthocytosis
* Low/absent serum betalipoproteins
* Hypercholesterolemia
* Steatorrhea
* Ataxia
* Nystagmus
* Motor incoordination
* Retinitis pigmentosa
* Neurological symptoms
* Muscle weakness
* Balance problems
* Degeneration of the retina
* Loss of vision
Abetalipoproteinemia Treatments
The list of treatments mentioned in various sources for Abetalipoproteinemia includes the following list. Always seek professional medical advice about any treatment or change in treatment plans.
* Vitamin A + Vitamin E
* Vitamin E – possibly used for treatment of related Vitamin E deficiency
* Dietary restriction of triglycerides
* Supplementation with medium-chain triglycerides
* Supplementation of lipid-soluble vitamins A, D, E, and K in high doses
* Vitamin A
* Aquasol A
* Palmitate-a 5000
* Ergocalciferol
* Drisdol
* Vitamin E
* Nutr-E-Sol
* Phytonadione
* Mephyton
* Folic acid
Abetalipoproteinemia Diagnosis
These home medical diagnostic tests may be relevant to Abetalipoproteinemia:
* Fatigue: Related Home Tests:
o Home Anemia Tests
o Home Thyroid Gland Function Tests
o Home Adrenal Gland Function Tests
o Home Calcium Deficiency Tests
o Sleep Apnea Testing
o Home HIV Tests
* Home Anemia Diagnostic Tests
Causes of Abetalipoproteinemia
Abetalipoproteinemia: Related Medical Conditions
To research the causes of Abetalipoproteinemia, consider researching the causes of these these diseases that may be similar, or associated with Abetalipoproteinemia:
* Autosomal recessive disorder
* familial abetalipoproteinemia
* Trigylcerides
* Dyspraxia
* Mental retardation
* Reinitis pigmentosa
* Scoliosis
* Muscle weakness
* Acanthocytes
* Triglycerides
Abetalipoproteinemia: Causes and Types
Causes of Broader Categories of Abetalipoproteinemia: Review the causal information about the various more general categories of medical conditions:
* Cholesterol metabolism conditions
* Lipid metabolism conditions
* Metabolic conditions
* Blood conditions
* Congenital conditions – metabolic disorders
Edited from wrongdiagnosis.com