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Homocystinuria:     more detail

Homocystinuria: Webster's Timeline History, 1966 - 2007 by Icon Group International, 2009-02-20 Homocystinuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Renee, MS Laux, 2005 Homocystinuria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 Homocystinuria: A Risk Factor of Premature Vascular Disease by G.H.J. Boers, 1986-12 Homocystinuria: Clinical, biochemical and genetic aspects of cystathionine s-synthase and its deficiency in man (Acta paediatrica Scandinavica) by Flemming Skovby, 1985 Dietary management of inherited metabolic disease: Phenylketonuria, galactosemia, tyrosinemia, homocystinuria, maple syrup urine disease by Phyllis B Acosta, 1976 Homocysteine: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Tish, A.M. Davidson, 2006

lists with details

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
   
   Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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
   
   Extractions: Genetic Disorders The Links to Diet 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
   
   Extractions: (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
   
   Extractions: 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
    
    Extractions: 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. 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.

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
    
    Extractions: 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

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

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