Extractions: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). 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).
Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia;Acanthocytosis; Apolipoprotein B deficiency. Treatment Consult http://www.pennhealth.com/ency/article/001666trt.htm
Extractions: Treatment: Consult a nutritionist or other medical professional for dietary teaching. 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 . The fat in the diet should come from medium-chain triglycerides since they are absorbed from the gut differently than most other fats The diet should contain no more than 5 ounces of lean meat, fish, or poultry per day. Use skim milk instead of whole milk.
Bassen-Kornzweig Syndrome bassenkornzweig syndrome. Alternative Names Abetalipoproteinemia;Acanthocytosis; Apolipoprotein B deficiency. Symptoms Failure http://www.pennhealth.com/ency/article/001666sym.htm
Extractions: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). 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).
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: classic adult neuroacanthocytosis disorder, neuroacanthocytosis variant, NA, Bassen-Kornzweig syndrome 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.
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: abetalipoproteinemia, Bassen-Kornzweig syndrome, spur cell hemolytic anemia 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, meaning urchin). Echinocytes, also known as burr cells, have multiple small projections that are distributed uniformly on the red cell surface. Acanthocytes, or spur cells, are prevalent in 2 very different constitutional disorders affecting lipid metabolism. The 2 disorders are abetalipoproteinemia and spur cell anemia of severe liver disease. Spur cell anemia is most often described in patients with alcoholic cirrhosis. In children, acanthocytes can be observed in any disease associated with severe hepatocellular damage. Conditions include severe active hepatitis, cholestasis, neonatal hepatitis, cardiac cirrhosis, metastatic liver disease, hemochromatosis, and Wilson disease. Acanthocytes are also observed in several other conditions, including infantile pyknocytosis and neonatal hepatitis, and they are observed with the McLeod blood group, anorexia nervosa, malnutrition, and myxedema. While the clinical contexts and pathogenesis of these disorders are quite dissimilar, the acanthocytes found in hereditary abetalipoproteinemia are essentially indistinguishable from those observed in patients with spur cell anemia.
BASSEN-KORNZWEIG SYNDROME bassenkornzweig syndrome - A rare congenital disorder that causes the body to notproduce chylomicrons, low density lipoprotein (LDL), and very low density http://www.medhelp.org/glossary/new/GLS_0618.HTM
Extractions: BASSEN-KORNZWEIG SYNDROME - A rare congenital disorder that causes the body to not produce chylomicrons, low density lipoprotein LDL ), and very low density lipoprotein VLDL ). Individuals with this condition are unable to properly digest fats. Other findings include ataxia peripheral neuropathy , and other forms of nerve dysfunction. Treatment includes vitamin E
Bassen-Kornzweig Syndrome bassenkornzweig syndrome. A System. A resource with information onover 4000 medical topics including bassen-kornzweig syndrome. http://www.bloodandmarrowtransplant.com/medical-terms/04185.htm
Inheritance Of Retinal Degeneration - Page 7 disease. bassenkornzweig syndrome (Abetalipoproteinemia) RP and progressiveneurologic problems are symptoms of this disease. Patients http://www.jwen.com/rp/ffb/ffb7.html
Extractions: When only one member of a family has a retinal degeneration, as we see in about 40 percent of families affected by RP, it is impossible to determine how the disease is inherited in that family. Nevertheless, to assess the risk of retinal degeneration occurring in other family members, it must be assumed that the disease is following one of the known inheritance patterns. Isolated cases of retinal degeneration most often represent autosomal recessive disease. Even though carrier parents have a 25 percent chance of having an affected child, there is still a 75 percent chance of having an unaffected child. So, it is often the case that there is only one child with a retinal degeneraUon in the family. Rarely, isolated cases of retinal degenerations represent new gene mutations. Retinal degenerations are caused by mutated genes that can pass through generations of a family. Occasionally, even when neither parent is affected nor carries an altered gene, one of the genes, usually in the egg or sperm, changes spontaneously from normal and becomes an altered gene, causing the disease in the child. New gene mutations most often represent the start of an autosomal dominant retinal degeneration, or when a ma is affected, either an autosomal dominant or X-linked retinal degeneration. Because a X-linked carrier female often shows mild effects of the altered gene, any mother of a male with an isolated case of retinal degeneration should be examined by an ophthalmologist to determine if she is a carrier.
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Retina Australia RP with possible physical abnormality, obesity, kidney disease and mental retardation.bassenkornzweig syndrome. - RP with progressive neurological problems. http://www.retinaaustralia.com.au/AssocConditions.htm
Extractions: USHER SYNDROME This genetic condition causes hearing loss from birth and progressive loss of sight due to retinitis pigmentosa (RP), which causes degeneration of the retina. Often the first symptom of RP is night blindness, followed by narrowing side vision leading to what is called "tunnel vision". In Usher Syndrome Type 1, there is severe damage to the cochlea from a very early age and therefore the child has severe deafness from birth. The child usually develops problems with night vision and tunnel vision due to RP in the first 10 years of life. In Usher Syndrome Type 2, the hearing loss is more variable, ranging from mild to severe. Symptoms of RP usually develop from late adolescence to late twenties. Communication is enhanced in these people with hearing aids and lip reading. LARA'S STORY Lara has been diagnosed with Usher Syndrome Type 2. She is currently Co-ordinator of the Youth Group for Retina Australia Queensland Lara is currently studying meetings and events management, and is planning a career in media, focusing on motivational speaking.
Health Library Abetalipoproteinemia (bassenkornzweig syndrome). AbetalipoproteinemiaDiscussion Board-Abetalipoproteinemia (bassen-kornzweig syndrome). http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l
Bassen-Kornzweig Syndrome bassenkornzweig syndrome. A Hospital. A resource with informationon over 4000 medical topics including bassen-kornzweig syndrome. http://www.kernanhospital.com/medical-terms/04185.htm
Asia Pacific J Clin Nutr (1992) 1, 249-251 Dische MR, Porro RS. The cardiac lesions in bassenkornzweig syndrome. macularatrophy and acanthocytosis (bassen-kornzweig syndrome). http://www.monash.edu.au/APJCN/Vol1/Num4/14p249.htm
Extractions: CASE STUDY Localized myopathy in a young man with abetalipoproteinaemia-myocardial infarction? M.R. Levinson* FRACP, M.B. Higginbotham** FRACP and S.H. Quarfordt*** MD Department of Medicine, Duke University Medical Center, and Veterans Administration Medical Center, Durham, North Carolina 27710; USA *Assistant Director, Intensive Care Unit. Royal Melbourne Hospital; Recipient of an American Liver Foundation Postdoctoral Fellowship. ***Director. Cooperative Lipid Laboratory. Veterans Administrative Medical Centre. Pluton Street. Durham NC USA 27705. Supported in part by the VA Research Service. Myocardial infarction has not previously been reported as a complication of abetalipoproteinaemia (ABL) We describe a case of probable asymptomatic myocardial infarction in a 24-year-old male with ABL and no previous cardiac history . Electrocardiographic and imaging evidence of the injury is presented.
