81. GeneCards Disorder Information: Homocystinuria Due To Mthfr Deficiency The name homocystinuria due to mthfr deficiency was extracted from OMIM, so a search in OMIM is very likely to give some interesting results! http://genecards.bcgsc.bc.ca/cgi-bin/disodisp?Homocystinuria due to MTHFR defici

82. Health Library - Google Directory Health Conditions and Diseases Neurological Drkoop Medical Encyclopedia homocystinuria - http//www.drkoop. com/ency/article/001199.htm An in depth look at this disorder, including a definition, http://12.42.224.152/library/healthguide/en-us/support/topic.asp?hwid=tu2113

83. Homocystinuria --  Encyclopædia Britannica homocystinuria hereditary metabolic disorder involving methionine, a sulfurcontaining essential amino acid. The metabolic sequence of methionine normally http://www.britannica.com/eb/article-9040901

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents homocystinuria Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%! More Britannica products homocystinuria  Encyclopædia Britannica Article Page 1 of 1 hereditary metabolic disorder involving methionine homocystinuria... (75 of 160 words) var mm = [["Jan.","January"],["Feb.","February"],["Mar.","March"],["Apr.","April"],["May","May"],["June","June"],["July","July"],["Aug.","August"],["Sept.","September"],["Oct.","October"],["Nov.","November"],["Dec.","December"]]; To cite this page: MLA style: "homocystinuria."

84. Homocystinuria - General Practice Notebook 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...

85. JAX®Mice Database - Mouse/Human Gene Homologs: Homocystinuria JAX®MICE Database Mouse/Human Gene Homologs homocystinuria List. http://jaxmice.jax.org/jaxmicedb/html/model_1004.shtml

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: homocystinuria" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply Cbs /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. Cbs /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. (2 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

86. Penn State Faculty Research Expertise Database (FRED) , An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETASYNTHASE and......homocystinuria. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D006712

87. Homocystinuria - New Jersey homocystinuria New Jersey - courtesy of Somerset Medical of Somerville, New Jersey. 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.

88. Indiana State Department Of Health homocystinuria is an inborn error of methionine metabolism. Heterozygote carriers of homocystinuria are usually asymptomatic. http://www.in.gov/isdh/programs/nbs/HCYInfo.htm

Health Care Information Local Health Departments Birth Certificates SEARCH by KEYWORD The Indiana State Department of Health serves to promote, protect and provide for the public health of the people in Indiana. Expand All Collapse All Homepage About the Agency ... Institutos Nacionales de la Salud Homocystinuria (HCY) Homocystinuria is an inborn error of methionine metabolism. The prevalence of this autosomal recessive condition is estimated at 1 in 200,000 - 335,000 live births. Most homocysteine, an intermediate compound of methionine degradation, is normally remethylated to methionine. This methionine-sparing reaction is catalyzed by the enzyme methionine synthase, which requires a metabolite of folic acid and a metabolite of vitamin B12. Heterozygote carriers of homocystinuria are usually asymptomatic. However, thromboembolic disease has been shown to be more common in these individuals than in the normal population. About 40% of affected individuals respond to high doses of Vitamin B6 and usually have milder clinical manifestations than those who are unresponsive to vitamin B6 therapy. Increased levels of both methionine and homocystine (or homocysteine) in body fluids are the diagnostic laboratory findings.

89. IJ TRANSGENDER - Vancouver Congress Abstract - A Scamvougeras homocystinuria and Transsexualism a Chance Co Occurrence or an Important Association? homocystinuria, a rare autosomal recessive metabolic disease, http://www.symposion.com/ijt/hbigda/vancouver/scam.htm

Introduction Editors: Friedemann Pfäfflin, Ulm University, Germany Walter O. Bockting, University of Minnesota, USA Eli Coleman, University of Minnesota, USA Richard Ekins, University of Ulster at Coleraine, UK Dave King, University of Liverpool, UK Managing Editor: Noelle N Gray, University of Minnesota, USA Editorial Assistant: Erin Pellett, University of Minnesota, USA Editorial Board Authors Contents Historic Paper s Info Authors´Guidelines Published by ISSN 1434-4599 XV Harry Benjamin International Gender Dysphoria Association Symposium The State of Our Art and the State of Our Science Homocystinuria and Transsexualism: a Chance Co- Occurrence or an Important Association? By Anton Scamvougeras, MBChB FRCPC Neuropsychiatry Unit, Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada Abstract Case Report Homocystinuria Transsexualism Discussion ... References Case Report A 46 year old transsexual individual, born phenotypic male, was referred for neuropsychiatric assessment owing to the recent onset of mood disorder with psychotic features and associated deficits in cognitive functioning. The likely cause of her symptoms was the late neurological sequelae of homocystinuria. What makes her situation noteworthy is the potentially important co-occurrence of homocystinuria and transsexualism.

90. Disease - Homocystinuria - Detroit, Michigan Disease homocystinuria - courtesy of Henry Ford Health System of Detroit, Michigan. http://www.henryfordhealth.org/12221.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Health Encyclopedia Back to main Health Information page Disease - Homocystinuria Pectus excavatum Definition: Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Alternative Names: Cystathionine beta synthase deficiency Causes And Risk: Homocystinuria is inherited as an autosomal recessive trait, which means that the child must inherit the defective gene from both parents to be seriously affected. Usual findings in homocystinuria are nearsightedness dislocation of the lens of the eye, and a tendency to develop blood clots in the veins and arteries. 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 nearsightedness. 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. The condition can also increase the risk for psychiatric disorders.

91. OB-GYN-L Messages For April, 1996: Neonatal Homocystinuria Screening Puzzlement I m pretty sure Maryland screens neonates for homocystinuria, as does a lab in Pittsburgh (Ed Naylor s). OTHER STUFF DELETED http://forums.obgyn.net/ob-gyn-l/OBGYNL.9604/0105.html

-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing Neonatal Homocystinuria Screening Puzzlement From: Bert Gold bgold@itsa.ucsf.EDU Thu Apr 4 18:28:37 1996 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: David Nagey: "Re: Ovarian Vein Thrombosis" Previous message: Geff Klein: "Re: Laryngeal Carcinoma and Pregnant" Next in thread: Allan James Fisher: "Re: Neonatal Homocystinuria Screening Puzzlement" Reply: Allan James Fisher: "Re: Neonatal Homocystinuria Screening Puzzlement" Friends, Several weeks ago, I posted a (slightly misworded) message requesting to know which states have neonatal screening programs for homcystinuria. I had read the sections of the latest edition of Scriver on the disease (Metabolic Basis of Inherited Disease) and concluded that neonatal therapy was perhaps not as propitious as I might have wished... Now, today, I have heard from a colleague in Manchester that I may be very mistaken in this regard, and yet I still have not achieved clarity concerning the vigilance of our states to screen for this disorder. I would note also that in my studies for the Genetics Board Exam today, I discovered that Indiana apparently also has a neonatal screening law for homocystinuria.

92. OB-GYN-L Messages For April, 1996: Neonatal Homocystinuria Screenin Neonatal homocystinuria Screenin. From Terrence.Jones@ncal.kaiperm.org Fri Apr 5 202439 1996. Messages sorted by date thread subject author http://forums.obgyn.net/ob-gyn-l/OBGYNL.9604/0123.html

-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing Neonatal Homocystinuria Screenin From: Terrence.Jones@ncal.kaiperm.org Fri Apr 5 20:24:39 1996 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: JoeFeste@aol.com: "Re: OB-GYN-L digest 475" Previous message: Arthurfree@aol.com: "Glucose Tolerance Screen" Next message: JoeFeste@aol.com: "Re: OB-GYN-L digest 475" Previous message: Arthurfree@aol.com: "Glucose Tolerance Screen" use when must restrict search to only the ob-gyn-l forum... Enter search keywords: Returns per screen: Require all keywords: Return to Mail a New Message to the Forum: ob-gyn-l@obgyn.net Forum Administrator: geffrey.klein@obgyn.net Report Technical Problems: webmaster@obgyn.net Last Updated: Fri Sep 2 05:23:06 2005 The American Medical Association is no longer designating CME hours for AMA Category II CME credit. However, physicians themselves may self designate learning activities as Category II CME credit hours if they feel it is of sufficient educational merit and meets the formal definitions of continuing medical education. OBGYN.net believes these interaction in this forum meets these criteria. For further information see the AMA web site home medical professionals women ... contact us This information is provided for educational purposes only.

93. Free Radicals And Human Disease, A Review as is the association of homocystinuria with fibrotic lesions of the arteries. homocystinuria . redox signaling free radicals human disease http://www.drproctor.com/crcpap2.htm

Free Radicals and Human Disease Peter H. Proctor, PhD, MD Invited Review Article ( Earlier versions: Radical Disease, 1972 and Radical Disease, 1984 CRC Handbook of Free Radicals and Antioxidants vol 1 (1989), p209-221. Free radical ( "Redox:" ) signaling: ... Abstract Indirect evidence suggests that free radicals and excited-state species play a key role in both normal biological function and in the pathogenesis of certain human diseases. For example, generation of activated species by inflammatory cells is a major microbiocidal mechanism and may also mediate important components of the inflammatory response. Activated processes may also be key components in the toxicity of many drugs, in aging , and in carcinogenesis. They may also figure in the etiology of certain ocular, neurological, and psychiatric diseases. The evidence for a role for electronically activated species in human disease has long been prevalent. For example, Darwin repeats the well-known observation that white, blue-eyed cats are usually deaf. Similarly, the relationship between pigmentary abnormalities and human deafness (for example, in Waardenberg's or Usher's syndromes) is commonplace in audiology(4). Likewise, physicians have long recognized the association between radical-generating metals such as copper or iron and fibrotic changes, e.g., interocular fibrosis in vitreous chalcosis and liver cirrhosis in Wilson's disease and Hemochromatosis. Further, free radicals and other activated species are so difficult to measure under biological conditions that the evidence for their role in any biological process - much less a human disease state - is normally indirect and circumstantial. This flawed scientific basis often results in heated controversy over methodology, results, and conclusions. Even less should be expected of the clinical evidence. Nonetheless, there is significant circumstantial evidence that active oxygen (Figures 1 and 2) is involved in some of the most fundamental mechanisms in pathogenesis and in the etiology of many human diseases.

94. Electron Transfer Factors In Psychosis And Dyskinesia homocystinuria (73), homocysteine thiolactone, 0.07, yes (11), yes (73,74 ?, see comment e, hypo ? (73), autoxidizes. Hyperthyroidism, eg, thyroxine (f) http://www.drproctor.com/rev/72rev.htm

This 30+year-old paper may contain the first suggestion that radicals are cellular messengers. later dubbed "redox-signaling" ), If anybody has anything earlier, please contact me at drp@drproctor.com . so I can give them proper credit. Other "lost" suggestions here are that homocysteine pathogenesis involves electron-transfer processes ( including oxidative stress ), that hyperuricemia involves oxidative stress, and that polyacetylenes such as melanin can be "doped" by charge-transfer agents (the proof of which won somebody else the 2000 Nobel Prize). Again, if this is wrong, please let me know. See Harman for a primary antecedent. For a later version of this review, go here . For more on homocysteine and redox signaling, go here. For more on homocysteine and altzheimers dementia go here here and here For more on doped polyacetylenes go here. ELECTRON-TRANSFER FACTORS IN PSYCHOSIS AND DYSKINESIA PETER PROCTOR Department of Physics, The University of Texas at Houston, M. D. Anderson Hospital and Tumor Institute, The University of Texas at Houston Graduate School of Biomedical Sciences, Houston Texas (Received May 17,1972)

95. Homocystinuria - Wikipedia, The Free Encyclopedia homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited homocystinuria represents a group of hereditary metabolic disorders http://en.wikipedia.org/wiki/Homocystinuria

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Homocystinuria From Wikipedia, the free encyclopedia. Homocystinuria , also known as Cystathionine beta synthase deficiency , is inherited disorder of the metabolism of the amino acid methionine. It is inherited an autosomal recessive trait , which means the child is to inherit the defective gene from both parents. This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normals and early symptoms, if any are present, are vague. Contents Symptoms Mortality/morbidity Treatment Recommended diet ... edit Symptoms A family history of homocystinuria Nearsightedness Flush across the cheeks Tall, thin build Long limbs High-arched feet (pes cavus) Knock-knees ( genu valgum Pectus excavatum Pectus carinatum Mental retardation Psychiatric disease edit Mortality/morbidity The life expectancy of patients with homocystinuria is reduced. It is known that before the age of 30, almost one fourth of patients die as a result of thrombotic complications(e.g. heart attack).

96. Homocystinuria homocystinuria Medical.WebEnds.com. homocystinuria. Cystathionine betaSynthase Deficiency Disease; Deficiency Disease, Cystathionine beta-Synthase; http://medical.webends.com/kw/Homocystinuria

Medical.WebEnds.com - Medical Terminology Dictionary A B C D ... Z WWW Medical.WebEnds.com Homocystinuria Cystathionine beta-Synthase Deficiency Disease; Deficiency Disease, Cystathionine beta-Synthase; Cystathionine beta Synthase Deficiency Disease; Deficiency Disease, Cystathionine beta Synthase An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS , arachnodactyly, MUSCLE WEAKNESS , genu varis, thin blond hair , malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION , and a tendency to develop fibrosis of arteries , frequently complicated by CEREBROVASCULAR ACCIDENT S and MYOCARDIAL INFARCTION . (From Adams et al., Principles of Neurology , 6th ed, p979) Google links Processing time was 0.030878067016602 seconds.

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