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         Bassen-kornzweig Syndrome:     more detail
  1. Bassen-Kornzweig syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Bryan, PhD Cobb, 2005

21. Dictionary Definition Of BASSEN-KORNZWEIG SYNDROME
Dictionary definition of bassenkornzweig syndrome. Medical dictionary. Browse Dictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D
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Dictionary definition of BASSEN-KORNZWEIG SYNDROME
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22. Dictionary Definition Of KORNZWEIG, ABRAHAM
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koilosternia

See: Bassen-Kornzweig syndrome.
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23. Acanthocytosis
report. Synonyms bassenkornzweig syndrome; Low-Density Beta Lipoprotein Deficiency. Disorder Subdivisions None. General Discussion
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You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Acanthocytosis Important It is possible that the main title of the report Acanthocytosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
  • Bassen-Kornzweig Syndrome Low-Density Beta Lipoprotein Deficiency
Disorder Subdivisions
  • None
General Discussion Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma. Chylomicrons are very small fatty droplets that are covered with a beta-lipoprotein and perform an essential function in fat transport in the blood and, thus, in fat metabolism. The absense of VLDL and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). Other symptoms include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia). Resources CLIMB (Children Living with Inherited Metabolic Diseases)

24. Index
Bartter s Syndrome Basal Cell Carcinoma Basal Cell Nevus Syndrome Basic Dental Care Basic Metabolic Panel bassenkornzweig syndrome Batten Disease Batten
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25. ► Bassen-Kornzweig Syndrome
Home Medical Reference Encyclopedia (English) Toggle English / Spanish bassenkornzweig syndrome.
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Bassen-Kornzweig syndrome
Overview Symptoms Treatment Prevention Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Symptoms:
Signs and tests:
  • CBC that shows abnormally shaped red blood cells (thorny appearance) Cholesterol studies, including total cholesterol that shows low levels VLDL and LDL Stool collection that shows elevated fat levels Low levels of fat-soluble vitamins such as Vitamins A,D,E or K Ophthalmology exam shows retinal degeneration Absent or low apolipoprotein B levels in blood Genetic testing may be available for mutations in the APOB or MTP genes EMG or nerve conduction velocity testing may show demyelination of peripheral nerves

Review Date: 10/30/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

26. Bassen-Kornzweig Syndrome
Overview, Symptoms, Treatment, Prevention. bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency.
http://www.healthscout.com/ency/article/001666prv.htm
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Bassen-Kornzweig syndrome
Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Prevention: High doses of fat soluble vitamins may be able to slow progression of some problems such as degeneration of the retina and decreased vision.
Review Date: 8/6/2003
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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27. Bassen-Kornzweig Syndrome
bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. Treatment Consult
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Bassen-Kornzweig syndrome
Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency
Treatment: Consult a nutritionist or other medical professional for dietary instruction. Large doses of vitamin supplements containing the fat-soluble vitamins ( vitamin A vitamin D vitamin E and vitamin K ) are given. To avoid intestinal symptoms, avoid eating long-chain triglycerides . Thus, the diet should contain no more than 5 ounces of lean meat, fish, or poultry per day. Use skim milk instead of whole milk. Since a certain amount of fat is needed for normal growth and development in all people, medium chain triglycerides are alternatively used as the major source of fat in the diet. These are absorbed from the gut differently than other fats, and thus avoid the intestinal symptoms. Medium chain triglycerides are taken as a dietary supplement, typically under the supervision of a physician or nutritionist.
Expectations (prognosis): The outcome is related to the degree and progression of neurological and visual problems . Severe forms of the disease lead to irreversible neurologic disease before age 30.
Complications:

28. Acanthocytosis
report. Synonyms. bassenkornzweig syndrome; Low-Density Beta Lipoprotein Deficiency. Disorder Subdivisions. None. Related Disorders List.
http://www.bchealthguide.org/kbase/nord/nord445.htm
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National Organization for Rare Disorders, Inc.
Acanthocytosis
Important
It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
  • Bassen-Kornzweig Syndrome Low-Density Beta Lipoprotein Deficiency
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Tangier Disease (Alphalipoproteinemia)
General Discussion
Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma. Chylomicrons are very small fatty droplets that are covered with a beta-lipoprotein and perform an essential function in fat transport in the blood and, thus, in fat metabolism. The absense of VLDL and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). Other symptoms include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia).
Symptoms
Symptoms of Acanthocytosis usually begin during the first year of life. They may include:

29. Abetalipoproteinemia - Information / Diagnosis / Treatment / Prevention
Lycos A definition of bassenkornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications.
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Related Topics: Blood Disorders Chronic Illness Nutrition and Metabolism Disorders Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "abetalipoproteinaemia" Health News: Search millions of published articles for news on Abetalipoproteinemia Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Pediatric Database A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management. people involved in abetalipoproteinemia we are people who have this disorder annd /or family involved. group help with information, support and investigation

30. Acanthocytosis - Quest Diagnostics Patient Health Library
report. Synonyms. bassenkornzweig syndrome; Low-Density Beta Lipoprotein Deficiency. Disorder Subdivisions. None. General Discussion.
http://www.questdiagnostics.com/kbase/nord/nord445.htm
document.write(''); var hwPrint=1; var hwDocHWID="nord445"; var hwDocTitle="Acanthocytosis"; var hwRank="1"; var hwSectionHWID="nord445"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD";
National Organization for Rare Disorders, Inc.
Acanthocytosis
Important
It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
  • Bassen-Kornzweig Syndrome Low-Density Beta Lipoprotein Deficiency
Disorder Subdivisions
  • None
General Discussion
Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma. Chylomicrons are very small fatty droplets that are covered with a beta-lipoprotein and perform an essential function in fat transport in the blood and, thus, in fat metabolism. The absense of VLDL and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). Other symptoms include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia).
Resources
CLIMB (Children Living with Inherited Metabolic Diseases)
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Crewe, Intl CW2 6BG

31. Bassen-Kornzweig Syndrome - A Medical Reference Article
bassenkornzweig syndrome. A Center. A resource with information on over 10,000 medical topics including bassen-kornzweig syndrome.
http://www.bloodandmarrowtransplant.com/dwp/000817.htm
Bassen-Kornzweig syndrome
A Medical Article provided by University of Maryland Medical Center A resource with information on over 10,000 medical topics including: Bassen-Kornzweig syndrome Previous Next

32. Search Health Information
Search Health Information, May 13, 2004. Back to Search bassenkornzweig syndrome (Disease). Definition. bassen-kornzweig syndrome
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33. Disease - Bassen-Kornzweig Syndrome, North Carolina
Disease bassen-kornzweig syndrome. Definition bassen-kornzweig syndrome is a rare, inherited disease characterized by the inability
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Disease - Bassen-Kornzweig syndrome
Definition: Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Causes And Risk: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood).
People with this disease are unable to properly digest fat, and have underdeveloped nerves (neuropathy), poor muscle coordination ( ataxia ), and other nerve disorders.

34. Health Information
Back to Search. bassenkornzweig syndrome (Disease). Definition. bassen-kornzweig syndrome is a rare, inherited disease characterized
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35. Health Information
Back to Search bassenkornzweig syndrome (Disease). Definition. bassen-kornzweig syndrome is a rare, inherited disease characterized
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36. Search Health Information
Search Health Information, May 20, 2004. Back to Search bassenkornzweig syndrome (Disease). Definition. bassen-kornzweig syndrome
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37. EMedicine - Neuroacanthocytosis Syndromes : Article Excerpt By: Kenneth Gross, M
This typical syndrome is distinguished from the bassenkornzweig syndrome, an autosomal recessive disorder of childhood in which abetalipoproteinemia and
http://www.emedicine.com/neuro/byname/neuroacanthocytosis-syndromes.htm
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Excerpt from Neuroacanthocytosis Syndromes
Synonyms, Key Words, and Related Terms: classic adult neuroacanthocytosis disorder, neuroacanthocytosis variant, NA, Bassen-Kornzweig syndrome
Please click here to view the full topic text: Neuroacanthocytosis Syndromes
Background: The classic neuroacanthocytosis (NA) syndrome includes combined features of acanthocytosis (ie, spiked red blood cells), chorea, orofacial tics, amyotrophy, and normobetalipoproteinemia. It begins in adult life and typically is inherited as an autosomal recessive disorder. This was recently noted to be due to a single gene locus defect on chromosome 9. The neurological course is progressive. Degeneration of the basal ganglia is a feature of this disorder. This typical syndrome is distinguished from the Bassen-Kornzweig syndrome, an autosomal recessive disorder of childhood in which abetalipoproteinemia and acanthocytosis occur along with steatorrhea, retinitis pigmentosa, and cerebellar ataxia. The array of NA syndromes is extremely complex. Not only are cases known in which neurological features of classic adult and childhood acanthocytosis syndromes overlap, but adult forms have been well described in which lipid profiles more closely resemble those of Bassen-Kornzweig syndrome, as have adult forms that begin in childhood.
  • An adult NA syndrome due to an X-linked gene defect is known that largely excludes females.

38. EMedicine - Acanthocytosis : Article Excerpt By: Frank E Shafer, MD
disease (which was later attributed to fat malabsorption). This disorder is sometimes referred to as bassenkornzweig syndrome.
http://www.emedicine.com/ped/byname/acanthocytosis.htm
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Excerpt from Acanthocytosis
Synonyms, Key Words, and Related Terms: acanthocytes, red blood cell acanthocytes, abetalipoproteinemia, Bassen-Kornzweig syndrome, atypical retinitis pigmentosa, progressive ataxic neurologic disorder, celiac disease, spur cell hemolytic anemia, spur cell anemia of severe liver disease, severe active hepatitis, cholestasis, neonatal hepatitis, cardiac cirrhosis, metastatic liver disease, hemochromatosis, Wilson disease, alcoholic cirrhosis, disorders of lipid metabolism, apolipoprotein B, apo B, cholesterol loading, unesterified cholesterol
Please click here to view the full topic text: Acanthocytosis
Background: The term acanthocyte is derived from the Greek word acantha, meaning thorn. Acanthocytes are dense contracted red blood cells with multiple thorny projections or spicules. The thornlike surface protrusions vary in width, length, and surface distribution. Acanthocytic morphology is attributed to changes in the composition of the red blood cell membrane lipids and their altered distribution between the 2 hemi leaflets of the lipid bilayer. Acanthocytes must be distinguished from echinocytes (from the Greek word echinos

39. :: Ez2Find :: Abetalipoproteinemia
Window A definition of bassenkornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications.
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