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 is an inherited disorder of the metabolism of the amino acid methionine. homocystinuria is inherited as an autosomal recessive trait, http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm

@import url(/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. Typical problems seen in people with 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.

3. Homocystinuria Search Our Site! homocystinuria (HCY) An Amino Acid Disorder homocystinuria Washington DOH MUMS - National Parent-to-Parent Network http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Homocystinuria eMedicine homocystinuria Article by Janette Baloghova, MDhomocystinuria - homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathionine synthase http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Homocystinuria

5. 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. "Genes are not necessarily destiny. They are influenced by the chemistry of what we consume." - article on

6. MedlinePlus Medical Encyclopedia Homocystinuria homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Causes, incidence, and risk factors Return to top http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. 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 Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Neuro-vascular Diseases Last Updated: October 26, 2004 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, Michael E DeBakey VA Medical Center Stroke Program Coauthor(s): Thomas A Kent, MD , Chief of Neurology, Houston Veteran Affairs Medical Center; Professor, Department of Neurology, Baylor College of Medicine, Michael E DeBakey VA Medical Center Stroke Program Pitchaiah Mandava, MD, PhD, is a member of the following medical societies: American Academy of Neurology , and American Heart Association Editor(s): Richard M Zweifler, MD

8. Dr. Koop - Homocystinuria 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/ency/article/001199.htm

Home Health Reference Homocystinuria Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Homocystinuria Injury Disease 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. Typical problems seen in people with 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.

9. Homocystinuria What is homocystinuria? How do People Get homocystinuria? How can Friends and Family Help? Resources. References homocystinuria http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Homocystinuria homocystinuria is thought to be inherited as an autosomal recessive genetic Symptoms associated with homocystinuria may include mental retardation, http://www.savebabies.org/diseasedescriptions/homocystinuria.php

Search Our Site! Homocystinuria (HCY) An Amino Acid Disorder Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you. What is it? Homocystinuria (HCY) 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.

11. Disorders homocystinuria Maple Syrup Urine Disease Organic Acidemias If you would like to join a discussion group homocystinuria, emailHCUFamilies http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Ben - Homocystinuria When it was determined that Ben had non B6 responsive homocystinuria, And I am very happy to say that, thanks to God, Ben s homocystinuria is in 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!

13. Homocystinuria a CHORUS notecard document about homocystinuria http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

15. 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 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Entrez PubMed homocystinuria due to cystathionine betasynthase (CBS) deficiency, inherited as an autosomal recessive trait, is the most prevalent inborn error of http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

17. EMedicine - Metabolic Disease Stroke Metabolic Disease Stroke homocystinuria/Homocysteinemia homocystinuria is a disorder of methionine metabolism, leading to an abnormal http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Homocystinuria a CHORUS notecard document about homocystinuria. homocystinuria. inborn error of metabolism. autosomal recessive. resembles Marfan syndrome but http://chorus.rad.mcw.edu/doc/00190.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system About CHORUS Search Feedback 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 Related CHORUS documents: Marfan syndrome arachnodactyly aortic dissection: etiology aortic aneurysm ... diaphragmatic hernia Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

19. HOMOCYSTINURIA SUPPORT RECENT NEWS. REFERENCES WELCOME TO MY homocystinuria WEB PAGE !!! The introduction gives basic details on what homocystinuria is about. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. Homocystinuria homocystinuria. inborn error of metabolism. autosomal recessive. resembles Marfan syndrome but mediumsized arteries involved; osteoporosis present http://chorus.rad.mcw.edu/to-go/00190.html

homocystinuria inborn error of metabolism autosomal recessive resembles Marfan syndrome but... medium-sized arteries involved osteoporosis present arachnodactyly uncommon More info at: homocystinura [OMIM] Home Musculoskeletal system

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