81. IJ TRANSGENDER - Vancouver Congress Abstract - A Scamvougeras The State of Our Art and the State of Our Science. homocystinuria and Transsexualisma Chance Co Occurrence or an Important Association? homocystinuria. http://www.symposion.com/ijt/hbigda/vancouver/scam.htm

ISSN 1434-4599 Introduction Editors F. Pfaefflin E. Coleman W. Bockting Assoc. Editors R. Ekins D. King Editorial Board Authors Contents Historic Paper s Search Linklist Newsletter Type in your E-mail address (press Enter) to get the abstracts of every new issue via E-mail. Info Authors´Guidelines Subscription Info Published by 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. Homocystinuria Transsexualism Discussion The likelihood of homocystinuria and severe GID occurring together by chance alone is extremely low, of the order of one in many (1.2 to 80) billions. If the disorders are associated by a biological mechanism, this is likely to have its effect at the level of the genome or through an early, perhaps in utero, neurochemical process. Investigation of these possible associations in appropriate populations has the potential to elucidate the determinants of human gender identity and GID.

82. WebMD/Lycos - Article homocystinuria Screening in Newborns Misses Many Cases. By, Brooke Kuhn. WebMDFeature. Nov. Most states in the US do not screen for homocystinuria, says Levy. http://webmd.lycos.com/content/article/20/1728_52277

Lycos Home Site Map My Lycos SEARCH HEALTH FOR: Health Home Health News Conditions A-Z Wellness Topics ... Sign In Post a message, chat... Join Free newsletters and more Event Highlight Tuesday, April 01, 2003 1:00 p.m. Sleep and Health for Older Americans Homocystinuria Screening in Newborns Misses Many Cases By Brooke Kuhn WebMD Feature Nov. 22, 1999 (Atlanta) Current screening tests in newborns for homocystinuria a condition that can result in mental retardation and other medical problems miss too many cases, according to a study in the Nov. 18 issue of the New England Journal of Medicine . The researchers recommend a change in the way doctors analyze the test results. "If one lowers the cutoff level that is, increases the sensitivity of newborn screening for homocystinuria you identify cases that otherwise would be missed," co-researcher Harvey Levy, MD, tells WebMD. Levy is senior associate in the departments of medicine and genetics at the Children's Hospital in Boston and an associate professor of pediatrics at Harvard Medical School. Homocystinuria is a rare disorder that affects only one out of every 200,000 infants, but if it is not detected early enough it can cause serious complications, including severe mental retardation, osteoporosis, and the formation of clots in blood vessels. The disorder is diagnosed by measuring the amount of the amino acid called methionine in the blood. The amount measured currently varies from state-to-state.

83. Welcome To ENH.org - Health Encyclopedia: Homocystinuria homocystinuria. Definition homocystinuria is an inherited disorder involving themetabolism of the amino acid methionine. Causes, incidence, and risk factors http://www.enh.org/Encyclopedia/ency/article/001199.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Homocystinuria Disease Injury Nutrition Poison ... Z 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 (

84. MTHFR CM960994, 51, CGGCCG, Arg-Pro, homocystinuria, 1. CM950818, 52, CGA-CAA,Arg-Gln, homocystinuria, 2. CM000525, 116, cGCC-ACC, Ala-Thr, homocystinuria,3. http://www.uwcm.ac.uk/uwcm/mg/ns/1/370882.html

MTHFR Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference CGG-CCG Arg-Pro Homocystinuria CGA-CAA Arg-Gln Homocystinuria cGCC-ACC Ala-Thr Homocystinuria CGG-CAG Arg-Gln Homocystinuria cCGA-TGA Arg-Term Homocystinuria GCC-GTC Ala-Val Cardiovascular disease, association with ACG-ATG Thr-Met Homocystinuria CCC-CTC Pro-Leu Homocystinuria CTC-CCC Leu-Pro Homocystinuria AAC-AGC Asn-Ser Methylenetetrahydrofolate reductase deficiency cCGC-TGC Arg-Cys Homocystinuria gCGC-TGC Arg-Cys Homocystinuria gTGG-GGG Trp-Gly Methylenetetrahydrofolate reductase deficiency gCGC-TGC Arg-Cys Homocystinuria cCGA-TGA Arg-Term Methylenetetrahydrofolate reductase deficiency TACa-TAG Tyr-Term Homocystinuria cCGT-TGT Arg-Cys Homocystinuria GGC-GAC Gly-Asp Homocystinuria GCA-GAA Ala-Glu Neural tube defect, additional risk, association ? gCGA-TGA Arg-Term Methylenetetrahydrofolate reductase deficiency CCC-CTC Pro-Leu Homocystinuria gAAG-TAG Lys-Term Homocystinuria cGAG-AAG Glu-Lys Homocystinuria References 1 - Goyette (1996) Am J Hum Genet 2 - Goyette (1995) Am J Hum Genet ... Am J Hum Genet HGMD

85. GASNet Anesthesiology: Homocystinuria homocystinuria symptoms and caveats http://gasnet.med.yale.edu/pediatric-syndromes/homocystinuria.php

86. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Homocystinuria homocystinuria. Causes and Risks homocystinuria is inherited as an autosomalrecessive trait. Treatment There is no specific cure for homocystinuria. http://www.enlmedical.com/article/001199.htm

Medical Dictionary Naturapathic Glossary Aphrodisiacs Immune System ... Table of content Homocystinuria Causes and Risks: Homocystinuria is inherited as an autosomal recessive trait. Constant 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. Homocystinuria has several features in common with Marfan's syndrome including dislocation of the lens, a tall thin build with long limbs; spidery fingers ( arachnodactyly ); and a pectus deformity. In addition, affected people may have high arches ( pes cavus ), knock-knees (

87. Homocystinuria homocystinuria. Definition homocystinuria is an inherited disorder involving themetabolism of the amino acid methionine. Causes, incidence, and risk factors http://www.umm.edu/ency/article/001199.htm

Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Homocystinuria Overview Symptoms Treatment Prevention 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 (

88. ORPHAN EUROPE - Homocystinuria What is homocystinuria ? homocystinuria belongs to a group of disordersknown as inborn errors of metabolism. Metabolism is a collective http://www.orphan-europe.com/homocystinurie_gb.html

your country: D GB F E I PL S SF DK N print page email page search Homepage Welcome The Orphan drug legislations Background Who are we? ... keywords Orphan Europe (UK) Ltd. Patient organisations Contact What is homocystinuria ? Homocystinuria belongs to a group of disorders known as inborn errors of metabolism. Metabolism is a collective name comprising all biochemical actions taking place in the human body. There are many metabolic diseases which present with different features depending on which biochemical pathway is affected. The term homocystinuria refers to an accumulation of very high levels of the biochemical molecule homocysteine in the blood and urine. Homocysteine is an amino acid derived from methionine (another amino acid). Amino acids are the building blocks of proteins, which are present in food (e.g. meat, fish, milk, cheese, eggs), but which are also major constituents of all cells in the human body. People suffering from homocystinuria cannot efficiently remove homocysteine from the blood. This is due to a deficiency of one of a number of enzymes responsible for converting homocysteine to a less toxic molecule. Homocysteine therefore builds up, and reaches abnormally high levels in blood and urine. There are 3 different types of homocystinuria, each depending on which particular enzyme is affected:

89. Homocystinuria : Meddie Health Search LINKS Drkoop Medical Encyclopedia homocystinuria An in depth look at this disorder,including a definition, the causes and risk factors, symptoms, prevention http://www.meddie.com/search/Health/Conditions_and_Diseases/Neurological_Disorde

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Metabolic : Homocystinuria ITEMS: LINKS: 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. (Rating: 0.00 Votes: 0) Rate It Pediatric Database A definition of homocystinuria, followed by epidemiology, pathogenesis, clinical features, investigations and management. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

90. GeneCards Disorder Information: Homocystinuria B6-responsive And Nonresponsive T GeneCards Disorder Information homocystinuria b6responsive and nonresponsivetypes Search different databases containing disease http://www.rzpd.de/cgi-bin/cards/disodisp?Homocystinuria B6-responsive and nonre

91. Disorders homocystinuria. homocystinuria com. If you would like to join a discussiongroup 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.

92. Homocystinuria Website Results :: Linkspider UK homocystinuria Websites from the Linkspider UK. homocystinuria Directory.Complete Results for homocystinuria Related Topics. homocystinuria http://www.linkspider.co.uk/Health/ConditionsandDiseases/NeurologicalDisorders/B

Homocystinuria Websites from Linkspider UK Keyword: Homocystinuria Linkspider UK Directory Homocystinuria Search for Directory Tree: Top Health Conditions and Diseases Neurological Disorders ... Metabolic : Homocystinuria (4) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Health: Conditions and Diseases: Rare Disorders 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.

93. ¥Û¥â¥·¥¹¥Á¥óÇ¢¾É Homocystinuria The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://xakimich.hp.infoseek.co.jp/endocrine/node56.html

Next: ¥á¡¼¥×¥ë¥·¥í¥¥×¾É¸õ·² maple syrup urine Up: Previous: ¥Õ¥§¥Ë¥ë¥±¥È¥óÇ¢¾É phenylketonuria, PKU ¥Û¥â¥·¥¹¥Á¥óÇ¢¾É homocystinuria ¥Û¥â¥·¥¹¥Á¥ó¤ò¥·¥¹¥¿¥Á¥ª¥Ë¥ó¤ËÊѤ¨¤ë¥·¥¹¥¿¥Á¥ª¥ó¦Â¹çÀ®¹ÚÁÇ(CBS)¤Î·ç»¾É¤Ë¤è¤¤Æ¡¢·ìæ¤Ë¥Û¥â¥·¥¹ ¥Á¥ó¤¬¾å¾º¤¹¤ë¡£ ËܾɤËÂФ·¤Æ¤Ï¥¬¥¹¥ê¡¼Ë¡¤Ë´ð¤Å¤¯¿·À¸»ù¥¹¥¯¥ê¡¼¥Ë¥ó¥°¤¬¼Â»Ü¤µ¤ì¤Æ¤¤¤ë¡£ Akimichi Tatsukawa

94. Health Library Find Information On Homocystinuria At MerckSource Find information on homocystinuria at MerckSource. Learn more about homocystinuria homocystinuria.Definition homocystinuria is an inherited http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

95. HOMOCYSTINURIA-I homocystinuriaI. DEFINITION 2. Urine. screening test for homocystinuria positivecyanide-nitroprusside test on freshly-voided urine (for disulfides). http://www.mednote.co.kr/Ped-Dic/HOMOCYSTINURIA-I.htm

HOMOCYSTINURIA-I DEFINITION: An inborn error of methionine metabolism characterized by the accumulation of homocysteine resulting in ocular, musculoskeletal, central nervous system, and vascular manifestations. EPIDEMIOLOGY: incidence: 0.5-1/100,000 age of onset: after age 3 (with ectopia lentis) risk factors: familial - autosomal recessive chrom.#: 21q22.3 gene: cystathionine beta-synthase M = F PATHOGENESIS: 1. Background cystathionine beta-synthase catalyzes the conversion of homocysteine and serine to cystathionine this disorder was initially described in 1962 in screening programmes of mentally retarded patients 2. Genetic Defect the gene has been cloned CLINICAL FEATURES: 1. Ocular Manifestations 1. Ectopia Lentis found in 55% of Vit B6-responders by age 10 found in 82% of Vit B6-nonresponders may be the first clinical manifestation and often presents between 3-5 years of age poor visual acuity blurred vison due to myopia, astigmatism, or aphakic hyperopia

96. Tyler For Life Foundation WEBSITE HAS MOVED!!!! Organization providing information on newborn screening and related disorders.Category Health Reproductive Health Birth Defect Prevention......Can't find our website? Don't panic. Just click HERE! The TYLER FOR LIFE FOUNDATIONis now Save Babies Through Screening and our website has moved!! http://www.tylerforlife.com/

Can't find our website? Don't panic. Just click HERE! The TYLER FOR LIFE FOUNDATION is now... Save Babies Through Screening and our website has moved!! We are now located at www.savebabies.org Please remember to update your records. Tyler For Life Foundation Adopted A New Name The Tyler For Life Foundation has adopted a name. We are now Save Babies Through Screening Foundation, Inc . Although we know that it will take a little time for all those who have known us as the Tyler For Life Foundation to catch on to calling us Save Babies Through Screening Foundation, Inc , we feel it will be well worth it in the end. From all of us here behind the scenes, we are ready to Save Babies Through Screening Foundation, Inc. and we hope you are too. Click here to learn more about our name change. Revised 2/25/03 HOME ABOUT US PRESS RELEASES DONATE NOW ... VOLUNTEER NOW Contact Save Babies Through Screening for questions about the content of this site or the Webmaster for questions about technical issues relates to this site. Terms of use for this site

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