41. Homocystinuria Information Diseases Database homocystinuria,Cystathionine betasynthase deficiency,Cystathionine synthase deficiency, Disease Database Information. http://www.diseasesdatabase.com/ddb5991.htm

Diseases Database Index Sponsors Contact ... Previous Page Homocystinuria Information Search 3 synonyms or equivalents were found. Homocystinuria aka/or Cystathionine beta-synthase deficiency aka/or Cystathionine synthase deficiency may cause or feature (Follow link for list) may be a risk factor for (Follow link for list) belong(s) to the category of (Follow link for list) Homocystinuria: Definition(s) via UMLS Code translations and terms via UMLS Homocystinuria: specific sites Send Homocystinuria to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 22:28:51 Metadata Updated 2004-05-22

42. Health Library - Homocystinuria homocystinuria. Infants born with homocystinuria may fail to grow and gain weight (failure to thrive) and may experience developmental delays. http://12.31.13.29/library/healthguide/MedicalTests/topic.asp?hwid=tu2113

43. Homocystinuria homocystinuria. by Rick Alan. Definition. homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET). http://www.somersetmedicalcenter.com/1498.cfm

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Homocystinuria by Rick Alan Definition Causes Risk Factors ... Organizations Definition Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET). Amino acids are the building blocks of protein. Homocystinuria occurs in approximately 1 in 100,000 people. People with homocystinuria lack enzymes that the body needs to properly break down the sulfur-containing amino acid methionine. A deficiency in any of several enzymes can lead to the disorder. In the most common form of the disorder, there is a deficiency of the enzyme cystathionine synthetase. Due to the enzyme deficiency, the body cannot properly metabolize MET and homocysteine. The result is impaired growth, development, and tissue repair. A form of the excess homocysteine appears in the urine and blood. Causes Homocystinuria is inherited as an autosomal recessive trait. This means that it occurs when a child inherits two defective genes—one from each parent. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. A child is only at risk for this disorder if both parents are carriers of the faulty gene that causes it.

44. Manbir Online ... Homocystinuria homocystinuria. homocystinuria is relatively common in Ireland (1 in 60,000 births) but rare elsewhere (less than 1 in 200,000 births). http://www.manbir-online.com/htm2/homocyctin.htm

Home Medi News Medical Tidbits Interesting Topics ... Ask a Question Homocystinuria Home Medi News Medical Tidbits Interesting Topics ... Ask a Question It is an inborn error of Methionine metabolism in which there is deficiency of enzyme cystathionine b -synthase Homocysteine is converted to methionine. In homocystinuria there is impaired conversion of homocysteine to methionine, The sulfur atom of the essential amino acid methionine is transferred ultimately to cysteine by the transsulfuration pathway. In one of these steps, homocysteine condenses with serine to form cystathionine. This reaction is catalyzed by the pyridoxal phosphate-dependent enzyme cystathionine b -synthase. Homocysteine and methionine accumulate in cells and body fluids; cysteine synthesis is impaired, resulting in reduced concentrations of this amino acid and its disulfide form cystine. Homocystinuria is relatively common in Ireland (1 in 60,000 births) but rare elsewhere (less than 1 in 200,000 births). This genetic defect is also seen in consanguineous marriages.

45. Homocystinuria ForMyDiet is designed to make living with and managing a homocystinuria diet a whole lot easier. homocystinuria Condition description homocystinuria. http://www.formydiet.com/Information/disorder.aspx?a=1

46. Information Center - Homocystinuria (Condition Description) ForMyDiet is designed to make living with and managing a homocystinuria diet a whole lot easier. Helping homocystinuria. Definition homocystinuria http://www.formydiet.com/Information/Doc.aspx?a=13

47. Pediatric Orthopedics- Homocystinuria homocystinuria. Paul D. Sponseller, MD Professor and Head of the Division of Pediatric Orthopedics The Johns Hopkins Hospital Baltimore, Maryland. http://www.ortho.hyperguides.com/Tutorials/pediatric_ort/Homocystinuria/default.

window.location="http://www.ortho.hyperguides.com/"; Homocystinuria Paul D. Sponseller, MD Professor and Head of the Division of Pediatric Orthopedics The Johns Hopkins Hospital Baltimore, Maryland

48. Homocystinuria Introduction. homocystinuria is an inborn error of metabolism in which the enzyme cystathionine synthase is deficient. 1,2 As in http://www.ortho.hyperguides.com/Tutorials/pediatric_ort/Homocystinuria/tutorial

window.location="http://www.ortho.hyperguides.com/"; Homocystinuria Paul D. Sponseller, MD Introduction Clinical Features Radiographic Features Treatment ... References Introduction Homocystinuria is an inborn error of metabolism in which the enzyme cystathionine -synthase is deficient. As in the majority of enzyme deficiencies, homocystinuria is an autosomal recessive disorder because even half of the normal amount of enzyme can prevent the phenotype from developing. Cystathionine -synthase is responsible for the conversion of the amino acid methionine to cysteine. Homocysteine functions as an intermediary metabolite in the process and accumulates in the urine and blood when cystathionine -synthase is deficient. Other less common enzyme defects may also produce excessive amounts of homocysteine that result in homocystinuria. Accumulation of this intermediary results in a syndrome that has some resemblance to Marfan syndrome but also shows some major differences as well. Homocystinuria is a rare disorder with an incidence of approximately 1 in 300,000 births, whereas Marfan syndrome affects approximately 1 in 15,000. Clinical Features There are 2 major hypotheses to explain the development of the clinical features based on the known metabolic disturbance.

49. Your Health - Homocystinuria homocystinuria. by Rick Alan. Definition. homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET). http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthga

50. Disorders homocystinuria. homocystinuria com. If you would like to join a discussion group homocystinuria, emailHCUFamiliessubscribe@topica.com. http://www.pku-allieddisorders.org/allieddisorders.htm

Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site: www.lowprotein.com Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications.

51. Homocystinuria homocystinuria. Test. Bacterial inhibition assay to determine the levels of serum methionine. Genetics. Autosomal recessive; 150,000 to 1150,000. Pathology. http://gucfm.georgetown.edu/welchjj/netscut/genetics/Homocystinuria.html

Homocystinuria Test Bacterial inhibition assay to determine the levels of serum methionine Genetics Autosomal recessive 1:50,000 to 1:150,000 Pathology Excess methionine due to a disorder of the trans-sulfuration pathways that convert the sulfur atom of methionine into the sulfur atom of cystine. Most commonly a deficiency of the enzyme cystathionine B-synthetase. Diagnosis Marfanoid habitus, ectopia lentis (lens dislocation), glaucoma, cataracts, osteoporosis, high palatal arch, and muscle weakness with a shuffling gait. Consider in any child or young adult with thromboembolism affecting both the large and small arteries as well as the veins, particularly in association with developmental disabilities, mental retardation or skeletal findings. Treatment 50% respond to large doses of vitamin B6. Nonresponsive patients with cystathionine B-synthetase deficiency should be treated with a methionine-restricted cystine-supplemented diet. Acknowledgment This page is based on a 1998 presentation by Owen Rennert, Georgetown University Medical Center, Department of Pediatrics, Division of Genetics. Also see other Inborn Errors of Metabolism Genetics NetScut Home Please direct all comments to: Jack Welch, M.D., Ph.D.

52. Homocystinurie homocystinuria. Acta Chir. Scand. http://www.orpha.net/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.

53. Homocystinuria homocystinuria. http://bioresearch.ac.uk/browse/mesh/C0019880L0019880.html

low graphics Homocystinuria other: Cystathionine beta-Synthase Oculocerebrorenal Syndrome Cystathionine beta-synthase Cystathionine beta-synthase (CBS), is a multifunctional enzyme that catalyses beta-replacement reactions between L-serine, L-cysteine, cysteine thioethers, or some other beta-substituted alpha-L-amino acids, and a variety of mercaptans. Information is given on the CBS enzyme (metabolism, expression, structure), the CBS gene (gene map, genomic sequence, CBS polymorhisms, exon-intron junctions), and CBS mutations. Access is also provided to the CBS mutation database, which lists all CBS alleles, CpG dinucleotides in the CBS, and a map of all CBS mutations. Made available on the Web by the laboratory of Jan P. Kraus within the Department of Pediatrics at the University of Colorado Health Sciences Center. Homocystinuria Cystathionine beta-Synthase Last modified: 27 May 2004

54. Page 1 HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR. All Rights Reserved. 2001. homocystinuria. ABOUT THE AUTHOR. ABOUT THIS WEBSITE. DISEASES. HOME. http://www.geocities.com/anaivette_morales/Homocystinuria/Page_1x.html

Introduction Infancy Childhood Adulthood Continue This site is intended to complement professional advice HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR Homocystinuria ABOUT THE AUTHOR ABOUT THIS WEBSITE DISEASES HOME ... References Master's Degree Project Genetic Counseling Program Brandeis University

55. Neurological Disorders, Brain Diseases, Metabolic, Homocystinuria Submit Your Site to the homocystinuria category. Sponsored homocystinuria Sites. Submit Your Site to the homocystinuria category. Health Spotlight. http://www.iseekhealth.com/homocystinuria-1956.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Neurological Disorders ... Homocystinuria More Homocystinuria Categories: Submit Your Site to the Homocystinuria category Sponsored Homocystinuria Sites Homocysteine Center - HeartCenterOnline American Heart Association member edited encyclopedia - the most comprehensive resource dedicated exclusively to heart health: cardiology encyclopedia, news, community, animations and more. 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. 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. Submit Your Site to the Homocystinuria category Sponsored Results Health Spotlight List Your Site Here Today!

56. A To Z Encyclopedia Topic: Homocystinuria Metabolism Program. Unfortunately, at this time, we are not able to provide information about this condition or procedure. However http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Homocystinuria

57. Homocystinuria- Medcohealth.com homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. homocystinuria. Source ADAM, Inc. Updated December 2003. Definition. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

58. Homocystinuria - General Practice Notebook homocystinuria. homocystinuria is a rare autosomal recessive disorder of methionine metabolism. Untreated homocystinuria may be complicated by 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...

59. GeneReviews: Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency Your browser does not support HTML frames so you must view homocystinuria Caused by Cystathionine BetaSynthase Deficiency in a slightly less readable form. http://www.geneclinics.org/profiles/homocystinuria/

Your browser does not support HTML frames so you must view Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency in a slightly less readable form. Please follow this link to do so.

60. Health Library - Homocystinuria homocystinuria. Infants born with homocystinuria may fail to grow and gain weight (failure to thrive) and may experience developmental delays. http://yourhealth.healtheast.org/library/healthguide/MedicalTests/topic.asp?hwid

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 95    Back | 1  | 2  | 3  | 4  | 5  | Next 20