1. Homocystinuria SEARCH OUR SITE. homocystinuria (HCU) An Amino Acid Disorder. What isit? homocystinuria (HCU) is a hereditary error of metabolism. http://www.savebabies.org/diseasedescriptions/homocystinuria.htm

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE Homocystinuria (HCU) An Amino Acid Disorder What is it?

2. Homocystinuria Support WELCOME TO MY homocystinuria WEB PAGE !!! I have developed this websitein order to help other homocystinuria patients and their parents. http://www.hcusupport.com/

Introduction Diet Newsletter references WELCOME TO MY HOMOCYSTINURIA WEB PAGE !!! My name is Bharat Ramanujam, I was diagnosed at the age of 2 that I had a condition called Homocystinuria, which is due to the absence of an enzyme in my body. This enzyme is called Cystathionine Synthase. I am 18 yrs old. I am currently studying a few courses in a junior college. My hobbies are listening to music, surfing the internet and watching basketball. I am also a volunteer at Los Angeles Zoo. I have developed this website in order to help other Homocystinuria patients and their parents. I have tried to build this website with some help from my parents. The introduction gives basic details on what Homocystinuria is about. Some basic information about what kinds of food Homocystinuria patients can eat is given in diet section. In my newsletter I will be explaining my recent activities, upcoming conferences, workshops, and other events related to Homocystinuria. I will try to update this newsletter every few months. If anyone wants to include their activities and comments in the newsletter, please send them to me. I have included useful references and links in the section references My email address is bharat@relaypoint.net

3. Pediatric Database A definition of homocystinuria, followed by epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/HOMOCYST.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 10/05/93 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 diplopia displacement of the lens down and in displacement of a lens into the anterior chamber is highly suggestive of homocystinuria and may produce a sudden and painful secondary glaucoma iridodenesis - tremulousness of the iris phacodenesis - tremulousness of the lens complications - glaucoma 2. Others

4. NORD - Homocystinuria Offers alternative names, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

5. Homocystinuria a CHORUS notecard document about homocystinuria Disclaimer. Feedback. Search. homocystinuria. inborn error of metabolism http://chorus.rad.mcw.edu/doc/00190.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system Feedback Search homocystinuria inborn error of metabolism autosomal recessive resembles Marfan syndrome but... medium-sized arteries involved osteoporosis present arachnodactyly uncommon More info at: homocystinura [OMIM] Charles E. Kahn, Jr., MD - 24 November 1995 Last updated 14 March 2001 Medical College of Wisconsin

6. Genetic Disorders: The Links To Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. http://www.ctds.info/genetic_disorders.html

Con nective Tissue Disorder Home Search Site Map ... Links Genetic Disorders The Links to Diet Read my Contents: Overview Genetic Disorders and Birth Defects Treatable Through Diet Prenatal Nutrition and Birth Defects Genetic Disorders, Birth Defects and Logic ... General Information on Genes, Nutrition and Disease Recommended Book: Genetic Nutritioneering by Jeffrey S. Bland with Sara H. Benum. How you can modify inherited traits and live a longer, healthier life. An interesting book about using nutrition and other lifestyle changes to overcome inherited health risks. ( more books Overview Many researchers and support groups state that birth defects and genetic disorders, especially connective tissue disorders such as Marfan syndrome osteogenesis imperfecta and Ehlers-Danlos syndrome , can't possibly be cured through diet because they are inherited genetic disorders. This conclusion is invalid simply because many birth defects and inherited genetic disorders have been found to be improved, or even cured, through diet. The old school of thinking that a birth defect or inherited disorder had to be caused by a single gene is no longer widely held in medical circles. The breakthrough concept in research is that many birth defects and inherited disorders are influenced by both genes and environmental factors, especially nutrition. Genes may make people susceptible to certain defects and disorders, but they are often only a part of the picture.

7. Homocystinuriahttp//www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?236200 - Octob 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. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?236200

8. Ben - Homocystinuria SEARCH OUR SITE. Ben's Story of Triumph This is a personal story shared by afamily whose child has homocystinuria. (She does not have homocystinuria). http://www.savebabies.org/familystories/benHCU.htm

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE Ben's Story of Triumph This is a personal story shared by a family whose child has Homocystinuria I remember going down the stairs of our apartment, in labor, to get in the car to go to the hospital. I had been having labor pains for 3 days. The Doctors had tried to stop it, but it apparently wasn't going to work. At the Hospital, at 11:00 a.m. on January 10th, we heard our son's first cries. A beautiful 6lb. 14 oz. boy, born 4 weeks early. His dad and I were overjoyed! He was just perfect. Benjamin had the newborn screening, as all newborns in Georgia do. We took him home on January 12, 1990 and proceeded to do all the things that normal parents do. We were so happy too finally have a child after 5 years of marriage.

9. Dr. Koop An in depth look at this disorder, including a definition, the causes and risk factors, symptoms, prevention, complications, prognosis, diagnosis and treatment. http://www.drkoop.com/conditions/ency/article/001199.htm

Search Dr. Koop Web MEDLINE Special Offers Top Features Menopause Diabetes Center Joint Pain Mini-Check Up Allergy Center ... Allergy Quiz Resources Subscribe to our Free Newsletter Privacy Policy Advertisement The URL you requested is no longer available. Please use the search below to find topics and/or articles in drkoop.com. Top Centers Cancer Center Read the lastest news on Cancer, Chemotherapy and Anemia. HIV Center Read the lastest news on HIV, AIDS and sexually transmitted diseases. Allergy Sufferers Free Pollen Count and other useful tools. Read the latest news and search our encyclopedia. Arthritis Center Read the latest news, take a joint pain check up and find out what your RA personality is. The drkoop.com URL and web site is not associated with C. Everett Koop, M.D., former Surgeon General of the United States.

10. MEDLINEplus Medical Encyclopedia: Homocystinuria homocystinuria. Definition Return to top homocystinuria is an inheriteddisorder involving the metabolism of the amino acid methionine. http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Homocystinuria Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Prevention Illustrations Pectus excavatum Definition Return to top Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine. Causes, incidence, and risk factors Return to top 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 (

11. Tyler For Life Foundation WEBSITE HAS MOVED!!!! An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program. http://www.tylerforlife.com/Disorders/homocystinuria.htm

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

12. Homocystinuria Related Books Search for books related to homocystinuria. Knowledge of homocystinuria would meet with a state http://sixgeneralwords.2itb.com/homocystinuria.html

Free Web space and hosting - 2itb.com Homocystinuria Begin your search for books related to: Homocystinuria Homocystinuria Book Search Movie Search Music Search Search for other book subjects or authors All Products Books Popular Music Classical Music Video DVD Electronics Software Book Search Music Search Movie Search Software Search ... privacy Site Design by Ace-Clipart.com Knowledge of Homocystinuria would meet with a state of things very similar to that which now obtains; but that the likeness of the past to the present would gradually become less and less, in proportion to the remoteness of his period of observation from the present day; that the existing distribution of mountains and plains, of rivers and seas, would show itself to be the product of a slow process of natural change operating upon more and more widely different antecedent conditions of the mineral frame-work of the earth; until, at length, in place of that frame-work, Homocystinuria would represent only a vast nebulous mass, representing the constituents of the sun and of the planetary bodies.

13. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Homocystinuria http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Homocystinuria

14. Homocystinuria forwards .. Menu. homocystinuria. Synonyms Cystathionine betasynthase deficiency, Homocystinaemia, Homocystinemia http://oxmedinfo.jr2.ox.ac.uk/pathway/Disease/23584.htm

Metabolic pathway illustrated Browse backwards Browse forwards Menu Homocystinuria Synonyms Cystathionine beta-synthase deficiency, Homocystinaemia, Homocystinemia McKusick No. 1. Physical Malar flush. Ectopia lentis, myopia. 2. Neurological Mental retardation. Convulsions in about 10%. Psychiatric disturbances 3. Gastrointestinal 4. Renal 5. Bone Marfanoid features in about 50%. Osteoporosis 6. Comment NB Heterogeneity, very variable in time of onset and presentation. 7. Haematological Arterial and venous thromboses, a major cause of morbidity 8. Biochemical P-Methionine elevated (up to 2mmol/l), homocystine may be present [NB homocysteine readily binds to plasma proteins by disulphide bonds] Homocystine and mixed disulphide, and other sulphur containing compounds. Increased methionine in CSF, homocystine may be present. Enzyme Cystathionine beta-synthase EC number ................Diagnostics and therapy................ Treatment (a)Restricted intake of methionine plus cystine supplements. (b) Administration of choline or betaine to enhance remethylation of homocystine. (c) Pyridoxine responsive form.

15. Health Ency. Disease Homocystinuria Psychiatric disease can also result. homocystinuria has several features in common with Marfan syndrome including http://www.icflorida.com/shared/health/adam/ency/article/001199.html

16. Introduction homocystinuria is an inborn error of methonine metabolism and was discovered in1962 independently in Northern Ireland by Carson and Neill and in the United http://www.hcusupport.com/Introduction.htm

Homocystinuria is an inborn error of methonine metabolism and was discovered in 1962 independently in Northern Ireland by Carson and Neill and in the United States by Gerritsen et al. The basic defect was defined by Mudd and his co-workers in 1964 as a deficiency of the hepatic enzyme cystathionine synthase. ( Nina A.J. Carson, The Treatment of Inherited Metabolic Disorders Homocystinuria (HCU), is a particular type of metabolic disorder similar to Phenylketonuria (PKU), Methylmalonic Acidemia(MMA) and Tyrosinemia. Each of these disorders require food products which are low in particular types of amino-acids. i.e. Methonine in the case of HCU, Phenylalanine in the case of PKU. . A simple explanation of the disorders such as HCU is given below. Methonine, an amino acid, which is present in regular food protein undergoes the following steps in digestion in the body Methonine Homocyst(e)ine Cystathionine synthase (absent in Homocystinuria) Cyst(e)ine The conversion of Methonine to Homocyst(e)ine takes place without any problem but Homocyst(e)ine to Cyst(e)ine does not happen because of absence of the enzyme, Cystathionine b- synthase. Homocyst(e)ine is not converted to form Cyst(e)ine. This leads to accumulation of Homocyst(e)ine, which is toxic, and deficiency of Cyst(e)ine, which is an essential amino acid in Homocystinuria patients. ( In healthy individual, Cyst(e)ine is made by the body but since HCU patients do not make this amino acid in their body it needs to be supplemented). In order to reduce the toxicity of accumulated Homocyst(e)ine, only low-protein diets which are low in Methonine are given regularly. The protein required to maintain proper growth, is given in the form of supplement which is free from Methonine.

17. ThirdAge - Adam - Homocystinuria Activities Beauty Style Computers Family Tree Health Horoscopes Love Money Travel Overview Symptoms Treatment Prevention homocystinuria Definition homocystinuria is an inherited disorder involving the metabolism of the amino acid http://www.thirdage.com/health/adam/ency/article/001199.htm

document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>'); Activities Computers Family Tree Health ... 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.

18. Gaucher's Disease homocystinuria, Book, Home Page. http://www.fpnotebook.com/END86.htm

Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Gaucher's Disease Book Home Page Cardiovascular Medicine Dental Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Cardiovascular Medicine Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Lysosomal storage disease Gangliosidosis Pathophysiology Inherited Inborn error of metabolism Disturbed Cerebroside metabolism Symptoms Abdominal heavy feeling Bone pain (at lesion sites) Signs Progressive Abdominal distention Splenomegaly Hepatomegaly Conjunctiva with brown pigmentation

19. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Neurological_Disorders/

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Brain Diseases > Metabolic Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

20. Homocystinuria Glycogen Storage Disease. homocystinuria. Maple Syrup Urine Disease. McArdle’sDisease. How can Friends and Family Help? Resources; References. homocystinuria. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_homocystinuria.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Adreno-leukodystrophy ... Glycogen Storage Disease Homocystinuria Maple Syrup Urine Disease McArdle’s Disease Mitochodrial Disorders Niemann-Pick Disease ... References Homocystinuria Homocystinuria (HOMO-SISTIN-UREA) is a genetic disorder that affects how protein is broken down in the body. It is therefore called a nutritional or metabolic disorder. About one out of 200,000 babies are born with homocystinuria each year in Canada. About VHHSC Reaching Out Patient Info Health Professionals ... Employment Info

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