Abetalipoproteinemia Diagnosis WisdomCard™
Our Guides and Physician Review team have organized the Top 10 Health Resources on Abetalipoproteinemia Diagnosis and compiled helpful research notes below.
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Research Notes on Abetalipoproteinemia Diagnosis
Blood tests, cholesterol studies, electromyography (EMG), eye examinations, nerve conduction study, stool sample analysis, and genetic testing are test performed to help diagnose abetalipoproteinemia.1 Stomach problems and high levels of fat detected in the stool, which is often pale and foul smelling, are the first signs.2 Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with fat absorption and production in the body.1
Fast Facts:
- Abnormal red blood counts, very low level of cholesterol and triglycerides, abnormal iron levels, retinitis, and abnormal muscle strength and contractions are symptoms of abetalipoproteinemia.3
- Abetalipoproteinemia is more common in boys than girls (approximately seventy percent of the time) and is usually diagnosed in infancy.3
- Dieting, vitamin supplementation, physical therapy, and occupational therapy are treatment options for this condition.4
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Research Notes References
- ↑ 1.0 1.1 A.D.A.M. (via MedlinePlus): Bassen-Kornzweig Syndrome: Exams and Tests
- ↑ Thomas Gale (via Healthline): Bassen-Kornzweig Syndrome: Diagnosis
- ↑ 3.0 3.1 About.com: Abetalipoproteinemia: Abetalipoproteinemia: How is it Diagnosed?
- ↑ Wikipedia: Abetalipoproteinemia: Diagnosis
About this WisdomCard
- Contributor: Carolyn DeLucas
- Reviewer: Nicole Kinsey
- Supervised by: The OrganizedWisdom Physician Review Team
- Last update: Oct. 14, 2009
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About WisdomCard
Meet our contributors and reviewers
- Contributor: Carolyn DeLucas
- Reviewer: Nicole Kinsey
- Supervised by: The OrganizedWisdom Physician Review Team
- Redirects: Diagnosis For Abetalipoproteinemia, Abetalipoproteinemia and Diagnosis, Diagnosis and Abetalipoproteinemia
- Last update: Aug. 24, 2009
Each WisdomCard is handcrafted by our team of physician-guided health advocates. Our goal is to make it easy for you to find the most useful health resources for any health topic by filtering out spam and bad links.