61. Homocystinuria homocystinuria. Definition homocystinuria is an inherited disorderinvolving the metabolism of the amino acid methionine. Causes http://www.pennhealth.com/ency/article/001199.htm

Disease Injury Nutrition Poison ... Prevention Homocystinuria Definition: Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine. Causes, incidence, and risk factors: Homocystinuria is inherited as an autosomal recessive trait. Usual findings in homocystinuria are myopia nearsightedness dislocation of the lens of the eye, and a tendency to develop venous and arterial clots ( thrombi Newborn infants appear normal, and early symptoms, if present at all, are vague and may occur as mildly delayed development or failure to thrive . Increasing visual problems may lead to diagnosis of this condition when the child, on examination, is discovered to have dislocated lenses and myopia. Some degree of mental retardation is usually seen, but some affected people have normal IQs. When mental retardation is present, it is generally progressive if left untreated. Psychiatric disease can also result. Homocystinuria has several features in common with Marfan syndrome including dislocation of the lens, a tall, thin build with long limbs; spidery fingers ( arachnodactyly ); and a pectus deformity of the chest. In addition, affected people may have high arches of the feet (

62. JAX®Mice Database - Mouse/Human Gene Homologs: Homocystinuria Form • EMail Alerts. Search Criteria Area is Mouse/Human Gene Homologshomocystinuria . JAX®Mice Strains. Stock Number, Strain Name http://jaxmice.jax.org/jaxmicedb/html/model_1004.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: homocystinuria" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply Cbs Level 6: Up to 1 to 2 breeder pairs or Dedicated Supply while strain is being cryopreserved due to low demand. Cbs Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. (2 stocks) Back to Top Research Research Resources Mouse Genome Informatics ... The Jackson Laboratory

63. Homocystinuria - General Practice Notebook medical information from General Practice Notebook. homocystinuria. homocystinuriais a rare autosomal recessive disorder of methionine metabolism. http://www.gpnotebook.co.uk/cache/-1919287289.htm

homocystinuria Homocystinuria is a rare autosomal recessive disorder of methionine metabolism. There is a worldwide distribution with an incidence of 1 per 52000 live births. Untreated homocystinuria may be complicated by: coronary artery disease cerebrovascular disease thromboembolism Click here for more information...

64. Marfan's Syndrome (comparison With Homocystinuria) - General Practice Notebook Marfan's syndrome (comparison with homocystinuria). inheritance Marfan's autosomal dominant; homocystinuria - autosomal recessive. lens dislocation http://www.gpnotebook.co.uk/cache/1382744141.htm

Marfan's syndrome (comparison with homocystinuria) inheritance: Marfan's - autosomal dominant homocystinuria - autosomal recessive lens dislocation: Marfan's - upward lens dislocation homocystinuria - downward lens dislocation aortic incompetence: Marfan's - aortic incompetence may occur homocystinuria - heart rarely affected intellectual development: Marfan's - normal homocystinuria - mental retardation other principle features: Marfan's - flat feet, herniae, scoliosis; there is a 50% reduction in life expectancy homocystinuria - osteoporosis, recurrent thromboembolism; characteristic laboratory features - plasma methionine and homocystine levels are elevated, homocystine is excreted in the urine, plasma cystine levels are reduced, positive urine cyanide-nitroprusside test; response to treatment with pyridoxine Click here for more information...

65. ORPHANET® : Methylmalonicaciduria With Homocystinuria ORPHANET database access. Methylmalonicaciduria with homocystinuria. Direct accessto details Alias Methylmalonic acidemia with homocystinuria. Home Page. http://www.orpha.net/static/GB/methylmalonicaciduria_with_homocystinuria.html

ORPHANET database access Methylmalonicaciduria with homocystinuria Direct access to details Alias : Home Page

66. ORPHANET® : Homocystinuria Due To Defect In Methylation ORPHANET database access. homocystinuria due to cystathionine betasynthase deficiency.Direct access to details Alias Cystathionine beta-synthase deficiency. http://www.orpha.net/static/GB/homocystinuria_due_to.html

ORPHANET database access Homocystinuria due to defect in methylation Direct access to details Alias : Home Page

67. Searchalot Directory For Homocystinuria Related Web Sites. NORD homocystinuria - Offers alternative names,a general discussion and further resources. Pediatric Database http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Neurological Disorders ... Metabolic : Homocystinuria Related Web Sites NORD - Homocystinuria - Offers alternative names, a general discussion and further resources. Pediatric Database - A definition of homocystinuria, followed by epidemiology, pathogenesis, clinical features, investigations and management. Drkoop: Medical Encyclopedia: Homocystinuria - An in depth look at this disorder, including a definition, the causes and risk factors, symptoms, prevention, complications, prognosis, diagnosis and treatment. Homocystinuria - An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program.

68. Homocystinuria homocystinuria. References. Gaudier 42. See related articles. Search Medlinefor homocystinuria. Related differential diagnosis. Osteoporosis. http://www.gentili.net/list4.asp?ID=112

69. 1290: Molecular Analysis Of Japanese Patients With Homocystinuria Due To Cystath Program Nr 1290 Molecular analysis of Japanese patients with homocystinuriadue to cystathionine betasynthase deficiency. S. Chen http://www.faseb.org/genetics/ashg99/f1290.htm

Program Nr: 1290 Molecular analysis of Japanese patients with homocystinuria due to cystathionine beta-synthase deficiency. S. Chen, M. Ito, T. Saijo, E. Naito, I. Yokota, J. Matsuda, Y. Kuroda. Department of Pediatrics, School of Medicine, University of Tokushima, Japan.

70. 01B: Cystathionine Beta-Synthase: Homocystinuria KmMutants.org. 01B Cystathionine betaSynthase homocystinuria Read/Post CommentsLocusLink 875. On the mechanism of pyridoxine responsive homocystinuria. II. http://www.kmmutants.org/01B.php

01B: Cystathionine beta-Synthase: Homocystinuria Read/Post Comments LocusLink: 875 Cystathionine beta-synthase (CBS) of the transsulfuration pathway catalyzes the PLP-dependent condensation of homocysteine and serine to form cystathionine. Individuals carrying a defective form of this enzyme (see OMIM 236200 ) accumulate homocysteine in the blood and urine and display a wide range of symptoms that appear to be due to homocysteine toxicity, including mental retardation, vascular and skeletal problems, and optic lens dislocation. Barber and Spaeth were the first to report pyridoxine-responsiveness with a complete return to normal of the patient's methionine and homocysteine concentrations in plasma and urine. They speculated that "if the deficient enzymatic activity were due to decreased affinity of a defective apoenzyme for its cofactor, activity might be restored by increasing the intracellular concentration of pyridoxal phosphate" (Barber et al. 1969). Kim and Rosenberg showed that CBS activity was 5% of controls in pyridoxine-responsive homocystinuric patients, who had markedly elevated plasma and urinary concentrations of methionine and homocystine. The mutant synthases had a 20-fold lower affinity for PLP. A 2- to 3-fold increase in the Km for homocysteine and serine was found in one B6-responsive patient, although the Km for PLP was not measured. The Vmax was also reduced. It was suggested that pharmacological doses of pyridoxine led to increased cellular concentrations of PLP and increased enzymatic activity (Kim et al. 1974).

71. Early Seizures In Homocystinuria With Methylenetetrahydrofolate Reductase Defici Epilepsies Epilepsies. Vol. 13, Issue 1, March 2001 Early seizures in homocystinuriawith methylenetetrahydrofolate reductase deficiency. Epilepsies. Vol. http://www.john-libbey-eurotext.fr/articles/epi/13/1/23-8/en-resum.htm

Epilepsies. Vol. 13, Issue 1, March 2001 Early seizures in homocystinuria with methylenetetrahydrofolate reductase deficiency Epilepsies. Vol. 13, Issue 1, March 2001: 23-8, Original articles Summary: Author(s): Keywords: methylenetetrahydrofolate reductase deficiency, early seizures, infantile spasms. © John Libbey Eurotext

72. Editing Homocystinuria Similar pages PDFGeneral Anesthesia for Patient with homocystinuria - A Case http://www.wikipedia.org/w/wiki.phtml?title=Homocystinuria&action=edit

73. [NBSnews] Homocystinuria Research Study Results Are Promising NBSnews homocystinuria Research Study Results Are Promising. SaveBabies Through Screening Announcement List NBSnews@savebabies http://www.geneticalliance.org/pipermail/nbsannouncements/2002-December/000147.h

[NBSnews] Homocystinuria Research Study Results Are Promising Save Babies Through Screening Announcement List NBSnews@savebabies.org Thu, 12 Dec 2002 16:05:57 -0800 Previous message: [NBSnews] Newborn testing to begin in New York for three more illnesses Next message: [NBSnews] Food Recall Affecting Galacotsemics Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] ... NBSnews@savebabies.org. Thank you for your help. *********************************************************** The Newborn Screening News and Announcement list is hosted by: Save Babies Through Screening 4 Manor View Circle Malvern, PA 19355-1622 Toll Free: 1-888-454-3383 Fax: (610) 993-0545 Email: email@savebabies.org www.savebabies.org Previous message: [NBSnews] Newborn testing to begin in New York for three more illnesses Next message: [NBSnews] Food Recall Affecting Galacotsemics Messages sorted by: [ date ] [ thread ] [ subject ] [ author ]

74. Homocystinuria homocystinuria Cystathionine Beta Synthase (CBS) deficiency. What is it? Infantswith homocystinuria do not have symptoms in the newborn period. http://newborn.chmcc.org/homocystinuria.htm

Homocystinuria [Cystathionine Beta Synthase (CBS) deficiency] What is it? CBS, a disorder of the metabolism of sulfur containing amino acids, is one of the rarest disorders included in the newborn screening panel. There are a number of different genetic and nutritional causes for elevated homocysteine levels, but newborn screening for CBS deficiency is possible because this condition also causes elevations in the amino acid methionine, which is the screening analyte. What should I look for? Infants with homocystinuria do not have symptoms in the newborn period. Other conditions leading to high methionine levels (see hypermethioninemia) may include prematurity, liver disease, or parenteral nutrition. What tests will confirm it or rule it out? The first step is to measure serum or plasma amino acids in a laboratory reporting pediatric normal ranges. Total homocysteine levels will also be elevated in affected infants. Urine homocystine levels are not reliable for diagnosis of newborns. This screening test has a high false positive rate. What happens to patients with this disorder?

75. Health Ency.: Disease: Homocystinuria homocystinuria. Definition homocystinuria is an inherited disorder involvingthe metabolism of the amino acid methionine. Causes and Risks. http://www.austin360.com/shared/health/adam/ency/article/001199.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease H Homocystinuria Overview Symptoms Treatment Prevention Definition: Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine. Causes and Risks Homocystinuria is inherited as an autosomal recessive trait. Usual findings in homocystinuria are myopia nearsightedness dislocation of the lens of the eye, and a tendency to develop venous and arterial clots ( thrombi Newborn infants appear normal, and early symptoms, if present at all, are vague and may occur as mildly delayed development or failure to thrive . Increasing visual problems may lead to diagnosis of this condition when the child, on examination, is discovered to have dislocated lenses and myopia. Some degree of mental retardation is usually seen, but some affected people have normal IQs. When mental retardation is present, it is generally progressive if left untreated. Psychiatric disease can also result. Homocystinuria has several features in common with Marfan syndrome including dislocation of the lens, a tall, thin build with long limbs; spidery fingers (

76. Directory :: Look.com homocystinuria (4) homocystinuria An article about disorder, as to what it is,the symptoms, how it is inherited and the newborn screening program. http://www.look.com/searchroute/directorysearch.asp?p=526721

77. Orthoguide.com Homocystinuria Search results for homocystinuria . NO MATCHES FOUNDPlease select a differentkeyword or category OR Search AltaVista for 'homocystinuria'. http://www.orthoguide.com/ortho/Homocystinuria.php3

Search results for "Homocystinuria" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Homocystinuria' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

78. NORD - National Organization For Rare Disorders, Inc. homocystinuria. To purchase fulltext report ($7.50) Copyright 1987, 1988, 1990,1994, 1995, 1996, 1997, 1998, 1999, 2000 Synonyms of homocystinuria http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Homocystinuri

79. MeSH-D Terms Associated To MeSH-C Term Homocystinuria MeSHD terms associated to MeSH-C term homocystinuria, G2D Home. The numberindicates the strength of the association of the corresponding http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Homocystinuria:resolved

80. Homocystinurie E.; Aberg, H. Abdominal aortic aneurysm in homocystinuria. Acta Chir. Scand. http://orphanet.infobiogen.fr/data/patho/FR/fr-homocys.html

Homocystinurie Nom de la maladie et ses synonymes Homocystinurie classique Incidence Mode de prise en charge incluant les traitements (CBS) Almgren, B.; Eriksson, H.; Hemmingsson, A.; Hillerdal, G.; Larsson, E.; Aberg, H. : Abdominal aortic aneurysm in homocystinuria. Acta Chir. Scand. 144: 545-546, 1978. Avramopoulos, D.; Cox, T.; Kraus, J. P.; Chakravarti, A.; Antonarakis, S. E. : Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3-prime untranslated region. Hum. Genet. 90: 566-568, 1993. Barber, G. W.; Spaeth, G. L. : Pyridoxine therapy in homocystinuria. (Letter) Lancet I: 337 only, 1967. Burke, J. P.; O'Keefe, M.; Bowell, R.; Naughten, E. R. : Ocular complications in homocystinuria: early and late treated. Brit. J. Ophthal. 73: 427-431, 1989. Carey, M. C.; Donovan, D. E.; Fitzgerald, O.; McAuley, F. D. : Homocystinuria: a clinical and pathological study of nine subjects in six families. Am. J. Med. 45: 7-25, 1968. Chasse, J. F.; Paul, V.; Escanez, R.; Kamoun, P.; London, J. : Human cystathionine beta-synthase: gene organization and expression of different 5-prime alternative splicing. Mammalian Genome 8: 917-921, 1997. Falcon, C. R.; Cattaneo, M.; Panzeri, D.; Martinelli, I.; Mannucci, P. M. : High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. Arteriosclerosis Thromb. 14: 1080-1083, 1994.

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