MEDLINEplus Medical Encyclopedia: Bassen-Kornzweig Syndrome Alternative names abetalipoproteinemia; Acanthocytosis; ApolipoproteinB deficiency. Definition Return to top BassenKornzweig syndrome http://www.nlm.nih.gov/medlineplus/ency/article/001666.htm
Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Alternative names Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Definition Return to top 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. Causes, incidence, and risk factors Return to top 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).
Dorlands Medical Dictionary abetalipoproteinemia (abeta·lipo·pro·tein·emia) (aba²tschwa-lip²o-pro²te-ne¢me-schwa)an autosomal recessive disorder of lipoprotein metabolism in http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS
Health Ency.: Disease: Bassen-Kornzweig Syndrome Alternative names abetalipoproteinemia; Acanthocytosis; ApolipoproteinB deficiency. Definition BassenKornzweig syndrome is a http://www.accessatlanta.com/shared/health/adam/ency/article/001666.html
Extractions: Important notice Ency. home Disease B Bassen-Kornzweig syndrome Overview Symptoms Treatment Prevention Alternative names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency 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. Causes and Risks 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).
Extractions: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/getmorbid , AAS 305400 Xp11. 21 Abdominal obesity -metabolic syndrome (2) AOMS1, SYNX 605552 3q27 Abdominal obesity -metabolic syndrome, 605552 (2) AOMS2 605572 17p12 Abetalipoproteinemia (3) APOB , FLDB 107730 2p24 Abetalipoproteinemia , 200100 (3) MTP 157147 4q22-q24 Acampomelic campolelic dysplasia (3) SOX9, CMD1, SRA1 http://www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml Clusters Mouse Homologies for Human Chr. X_chromosome X Disease Genes Myelin stained section of brain in adrenoleukodystrophy Adrenoleukodystrophy Duchenne Muscular_dystrophy Lowe Syndrome Norrie Disease Rett_syndrome See OMIM or Genes and Disease for additional examples
Directory :: Look.com abetalipoproteinemia (5) See Also. information. Med Help A brief definitionof abetalipoproteinemia. Pediatric Database A definition http://www.look.com/searchroute/directorysearch.asp?p=526699
Síndrome De Bassen-Kornzweig - Información General Translate this page Nombres alternativos abetalipoproteinemia. Definición Es una raraenfermedad congénita, caracterizada por heces grasosas y retraso http://pcs.adam.com/ency/article/001666.htm
Extractions: Temas especiales ... V W X Y Z Enfermedades ... Z Información general Síntomas Tratamiento Abetalipoproteinemia. Es una rara enfermedad congénita, caracterizada por heces grasosas y retraso en el desarrollo infantil. El síndrome de Bassen-Kornzweig es un trastorno congénito raro, que suele transmitirse con carácter autosómico recesivo. A pesar de que el síndrome afecta ambos sexos, predomina en los hombres (70% de los casos). La alteración radica en la incapacidad del organismo para producir lipoproteínas (moléculas de grasa combinadas con proteína ) de los tipos LDL , lipoproteínas de baja densidad y lipoproteínas de muy baja densidad ( VLDL ) y quilomicrones (pequeñas moléculas de grasa presentes en la sangre). Estas sustancias son indispensables para la absorción de grasas. Las personas con este síndrome presentan deterioro en la digestión de este tipo de nutrientes, lo que conduce al desarrollo insuficiente e inapropiado de los nervios (neuropatía), mala coordinación muscular ataxia ) y otros trastornos nerviosos.
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Extractions: (Hypoproteinemia) Low lipoprotein levels in the plasma seen as rare familial disorders or secondary to hyperthyroidism, malabsorption, and malnutrition. Low levels of low density ( -) lipoproteins (LDL) can be seen in AIDS; hematologic malignancies, such as acute myelocytic leukemia and chronic myelocytic leukemia; and disorders with splenomegaly, such as Gaucher's disease. HYPOALPHALIPOPROTEINEMIA (Low HDL Levels) In many epidemiologic studies, low levels of high density ( -) lipoproteins (HDL) have been associated with increased coronary artery disease (CAD) risk. Low HDL levels often are due to genetic factors. Additionally, HDL levels are reduced by obesity, sedentary lifestyle, cigarette use, diabetes mellitus, uremia and nephrotic syndrome, and several drugs (thiazide diuretics, retinoids, -blockers, androgenic steroids, most progestational drugs, and probucol).
THE MERCK MANUAL, Sec. 1, Ch. 3, Vitamin Deficiency, Dependency, And Toxicity A discussion about this vitamin and the organs which can be affected by deficiency, signs and symptoms, Category Health Conditions and Diseases 179), which occurs mainly in children who have fat malabsorption due to abetalipoproteinemia,chronic cholestatic hepatobiliary disease, celiac disease, or a http://www.merck.com/pubs/mmanual/section1/chapter3/3f.htm
Extractions: This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 1. Nutritional Disorders Chapter 3. Vitamin Deficiency, Dependency, And Toxicity Topics [General] Vitamin A Deficiency Vitamin A Toxicity Vitamin D Deficiency And Dependency ... Vitamin C Deficiency Vitamin E Deficiency Vitamin E (tocopherol) is a generic term for compounds that have a 6-chromanol ring, an isoprenoid side chain, and the biologic activity of -tocopherol. The vitamin E group contains -, and -tocopherols, which vary in the extent to which the chromanol ring is methylated. d- -Tocopherol is the only naturally occurring stereoisomer and the most potent in biologic assays (1.49 IU/mg); the totally synthetic dl- -tocopherol is completely racemic and has less biologic activity (1.1 IU/mg) than d- -tocopherol. The international standard is dl- -tocopherol acetate (1.0 IU/mg). In general, tocopherols act as antioxidants to prevent lipid peroxidation of polyunsaturated fatty acids in cellular membranes. The antioxidant activity of -tocopherol is similar to that of glutathione peroxidase, which contains selenium (see
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Extractions: See Also: Health: Conditions and Diseases: Blood Disorders Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Med Help - A brief definition of abetalipoproteinemia. Pediatric Database - A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management. WebMD/Lycos - A definition of Bassen-Kornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications. people involved in abetalipoproteinemia - we are people who have this disorder annd /or family involved. group help with information, support and investigation General Practice Notebook - Abetalipoproteinaemia - Clinically-oriented information.
Bassen-Kornzweig Syndrome - Overview Alternative names abetalipoproteinemia. Definition A rare, inherited diseasecharacterized by fatty stools and failure to thrive in infancy. http://www.wfubmc.edu/besthealth/ency/article/001666.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). People with this disease are unable to properly digest fat and have underdeveloped nerves (neuropathy), poor muscle coordination ( ataxia ), and other nerve disorders. Acquired On: 1/1/97 Acquired From: Mosby Publishing Company The information provided herein should not be used for diagnosis or treatment of any medical condition. It is provided for your general information and is not a substitute for medical care or supervised medical treatment. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. adam.com is a founding member of Hi-Ethics (http://www.hiethics.com)
Abetalipoproteinemia : Meddie Health Search ITEMS LINKS Med Help A brief definition of abetalipoproteinemia.(Rating 0.00 Votes 0) Rate It. Pediatric Database A definition http://www.meddie.com/search/Health/Conditions_and_Diseases/Neurological_Disorde
Viasalus / Enciclopedia / Translate this page Nombres alternativos abetalipoproteinemia. DefiniciónEs una raraenfermedad congénita, caracterizada por heces grasosas y retraso http://www.viasalus.com/vs/B2C/cn/enciclopedia/ESP/ency/article/001666.jsp
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).
Abetalipoproteinemia abetalipoproteinemia. A Medical Medical System. A resource with informationon over 4000 medical topics including abetalipoproteinemia. http://www.bloodandmarrowtransplant.com/medical-terms/04182.htm