1. NORD - National Organization For Rare Disorders, Inc. Offers alternative names, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Homocystinuri

2. MedlinePlus Medical Encyclopedia: Homocystinuria homocystinuria. Definition Return to top. homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Homocystinuria Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Pectus excavatum Alternative names Return to top Cystathionine beta synthase deficiency Definition Return to top Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Causes, incidence, and risk factors Return to top 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.

3. Homocystinuria homocystinuria. Definition homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Alternative Names http://www.drkoop.com/ency/article/001199.htm

Advertisement Search Dr. Koop Web MEDLINE Special Offers TV Specials Top Features Schizophrenia Hair Loss Liver Disease Allergies ... Impotence Resources Subscribe to our Free Newsletter Health Encyclopedia ... Privacy Policy Advertisement Advertisement Disease Injury Nutrition Poison ... Prevention Homocystinuria Definition: Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Alternative Names: Cystathionine beta synthase deficiency Causes, incidence, and risk factors: 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.

4. 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 26 May 2004 Medical College of Wisconsin

5. EMedicine - Homocystinuria : Article By Janette Baloghova, MD homocystinuria homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathionine synthase. This defect leads to a multisystemic http://www.emedicine.com/derm/topic708.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Homocystinuria Last Updated: September 24, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: homocysteine, cystathionine synthase deficiency, metabolic disorder, methionine metabolism AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Janette Baloghova, MD , Lecturer, Department of Dermatology, Medical Faculty, University of PJ Safarik at Kosice, Slovak Republic Coauthor(s): Robert A Schwartz, MD, MPH , Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School Zuzana Baranova, MD , Senior Lecturer, Department of Dermatology, University of PJ Safarik at Kosice, Slovak Republic Alexander Halagovec, MD, PhD , Professor, Department of Dermatology, PJ Safarik University School of Medicine, Slovakia Republic Editor(s): Jacek C Szepietowski, MD, PhD

6. Homocystinuria 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

7. Medical Encyclopedia: Homocystinuria (Print Version) Medical Encyclopedia homocystinuria. Definition. homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. http://www.nlm.nih.gov/medlineplus/print/ency/article/001199.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Homocystinuria URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm Alternative names Cystathionine beta synthase deficiency Definition Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Causes, incidence, and risk factors 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.

8. 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 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. Some interesting examples and articles on the subject are listed below.

9. Homocystinuria What is it? homocystinuria (HCU) is a hereditary error of metabolism Inheritance and Frequency. homocystinuria is thought to be inherited as an autosomal recessive genetic trait http://www.savebabies.org/diseasedescriptions/homocystinuria.htm

10. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?236200

11. Homocystinuria Search Our Site! homocystinuria (HCU) An Amino Acid Disorder. What is it? homocystinuria (HCU) is a hereditary error of metabolism. http://www.savebabies.org/diseasedescriptions/homocystinuria.php

Search Our Site! Homocystinuria (HCU) An Amino Acid Disorder What is it? Homocystinuria (HCU) is a hereditary error of metabolism. It is usually caused by a defective enzyme (cystathionine synthetase) needed to properly digest a component of food called methionine (an amino acid). Inheritance and Frequency Homocystinuria is thought to be inherited as an autosomal recessive genetic trait, which means the gene defect is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect. Studies conducted since 1979 show that 1 of every 200,000 live births in the Unite States will have Homocystinuria. Prevalence in Great Britain, Ireland, and Australia is approximately is 1 in 82,000 live births. Symptoms associated with Homocystinuria may include mental retardation, seizures, psychiatric disturbances, delays in reaching developmental milestones (e.g., crawling, walking, sitting), displacement of the lens of the eye (ectopia lentis), abnormal thinning and weakness of the bones (osteoporosis and scoliosis ), and/or the formation of blood clots (thrombi) in various veins and arteries that may lead to life-threatening complications. Long Term Effects Optic lens dislocation may occur even with early treatment. Approximately 50% of untreated individuals die before age 25.

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

13. Ben - Homocystinuria Search Our Site! Ben s Story of Triumph This is a personal story shared by a family whose child has homocystinuria. (She does not have homocystinuria). http://www.savebabies.org/familystories/benHCU.php

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. When Ben was a little over a week old I got a call from his pediatrician informing us that his newborn screening was abnormal. They proceeded to tell me what Ben had been screened for and fear just gripped my heart I had never heard of these-what I thought was diseases. I called my mother and cried, "Something is wrong with my baby”! Ben has been on a low protein diet for almost 12 years now. And I am very happy to say that, thanks to God, Ben's Homocystinuria is in excellent control. He is in the 6th grade (in the gifted student program) and has been a straight A student since he started school. He plays basketball, football and baseball. He's even been chosen for All-stars, in baseball, for the last 2 years. He now has a 2 1/2 year old sister, Breanna. (She does not have Homocystinuria). He does all the things any other 11-year-old does. He spends the night with friends, goes, to parties, eats out, and he's a whiz at video games! He is warm and generous and would give someone the shirt off of his back. He is a GOOD kid!

14. Homocystinuria Information Diseases Database homocystinuria Cystathionine betasynthase deficiency Cystathionine synthase deficiency, Disease Database Information http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=5991

15. EMedicine - Metabolic Disease & Stroke: Homocystinuria/Homocysteinemia : Article Metabolic Disease Stroke homocystinuria/Homocysteinemia homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of http://www.emedicine.com/neuro/topic578.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Neuro-vascular Diseases Last Updated: August 28, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: homocsyteinuria, homocystinemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Pitchaiah Mandava, MD, PhD , Assistant Professor, Department of Neurology, Baylor College of Medicine Coauthor(s): Thomas A Kent, MD , Chief of Neurology, Houston Veteran Affairs Medical Center; Professor, Department of Neurology, Baylor College of Medicine Pitchaiah Mandava, MD, PhD, is a member of the following medical societies: American Academy of Neurology American Medical Association , and Sigma Xi Editor(s): Richard M Zweifler, MD , Director of Stroke Center, Associate Professor, Department of Neurology, University of South Alabama; Francisco Talavera, PharmD, PhD

16. Mainpage CHOICE For Partners Healthcare Health and wellness services, medical information, and interactive health features for our user community. homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET People with homocystinuria lack enzymes that the body needs to properly break http://community.healthgate.com/GetContent.asp?siteid=partners&docid=/dci/ho

17. Homocystinuria Support WELCOME TO MY homocystinuria WEB PAGE !!! I have developed this website in order to help other homocystinuria patients and their families. http://www.hcusupport.com/

INTRODUCTION DIET MY RECENT TRIPS AND ACTIVITIES REFERENCES ... UPCOMING EVENTS WELCOME TO MY HOMOCYSTINURIA WEB PAGE !!! Since 1999 I was not able to update my HCU support site because of having series of health problems. Now that I feel much better I will be updating it on a regular basis. 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 ß Synthase. I am 21 yrs old. I have been taking a few courses each semester in El Camino college, near Los Angeles for the past three years. I'm going to take courses such as Geography, History and so on. My hobbies are listening to music, surfing the internet and watching basketball. I am also a volunteer at Los Angeles Zoo currently. I have developed this website in order to help other Homocystinuria patients and their families. I have tried to build this website with some help from my parents. The introduction gives basic details on what Homocystinuria is about.

18. Brigham & Women's Hospital Health Information Health and wellness services, medical information, and interactive health features for our user community. homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET People with homocystinuria lack enzymes that the body needs to properly break http://community.healthgate.com/GetContent.asp?siteid=bwh&docid=/dci/homocys

19. INTRODUCTION 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 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

20. OMIM - HOMOCYSTINURIA http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236200

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