Abetalipoproteinemia: Symptoms, Treatments, Diagnosis and Causes

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


Disclaimer: This content including advice provides generic information only. It is in no way a substitute for qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.

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