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Abetalipoproteinemia
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Transcript
Signs and Symptoms
Specific symptoms of ABL include:
abnormal growth patterns in infants, such as developmental milestone delays or failure to thrive
abnormal curvature of the spine
problems with balance and dexterity
problems with coordination
muscle weakness
a protruding abdomen
problems with vision
speech disorders
slurring of speech
fatty, frothy, foul-smelling, or otherwise irregular stools
Causes
ABL is the result of problems with a gene that tells your body how to combine fat with protein to make something called a lipoprotein. When the gene doesn’t work, it’s harder for your body to digest certain types of fat and vitamins.
ABL is an autosomal recessive condition. You must inherit the defective gene from both parents to have the condition.
How is it Diagnosied
History of Abetalipoproteinemia
Abetalipoproteinemia (ABL)
One of the ways that doctors diagnose ABL is to look for changes in your metabolism. Tests for deficiencies in the following vitamins are common:
vitamin A
vitamin D
vitamin E
vitamin K
Abetalipoproteinemia was formly called
Bassen-Kornzweig syndrome after Frank Bassen.
It has also been called acanthocytosis from the peculiar shape of the red blood cells in this disorder. It is a disorder of lipid metabolism.
This disorder of lipid metabolism has widespread effects throughout the body. One of the earliest symptoms is nightblindness due to damage to the rod receptors in the retina. It also prevents the body from completely absorbing certain dietary fats.
Edward A. Pratt,Jr.
May 31, 2016
Period: 3
Incidence
Abetalipoproteinemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). It affects less than 200,000 people in the US population. It does not affect any specific ethnic and 1 in 1,000,000in the world wide general population
Treatment
Sources
A common treatment for ABL is high doses of fat-soluble vitamins. You may also receive other supplements, including linoleic acid, which is an omega-6 fatty acid.
Diet can be an important part of treating ABL. Your doctor may recommend speaking to a nutritionist who can help you lower your fat intake. This might involve changing to skim milk or eating smaller servings of meat and other fatty foods.
http://rarediseases.org/rare-diseases/abetalipoproteinemia/
https://ghr.nlm.nih.gov/condition/abetalipoproteinemia
http://www.healthline.com/health/abetalipoproteinemia
http://www.rightdiagnosis.com/a/abetalipoproteinemia/intro.htm
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