21. What Is Homocystinuria? What is homocystinuria? homocystinuria (HOMOSISTIN-UREA) is a geneticdisorder that affects how protein is broken down in the body. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_homocystinuria_whatis.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Homocystinuria What is Homocystinuria? How do People Get Homocystinuria? How is Homocystinuria Treated? How can Friends and Family Help? Resources ... References What is 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. Homocystinuria can be treated with drugs, with diet or with a combination of both. One of the drugs used is pyridoxine or vitamin B6 . About half the people affected by homocystinuria are very responsive to vitamin B6 and do not need any other special treatment. These people are said to be " pyridoxine responsive ." There are 2 other groups of people with homocystinuria: those who partly respond to pyridoxine, and those who have no response to pyridoxine. Both these groups of people will need to take other medications and follow a special diet. Amino acids are the building blocks of protein. Of the 20 amino acids found in body protein, 8 cannot be made by adults and must be obtained from foods. These are considered

22. HOMOCYSTINURIA Features Listed For homocystinuria. McKusick 236200. Advanced bone age/largeepiphyses; Aminoaciduria; Arachnodactyly; Blood vessels, general abnormalities; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?791

23. Health Care Professionals' Guide To Newborn Screening - Homocystinuria homocystinuria. Treatment The treatment for homocystinuria is the dietary restrictionof methionine as well as large doses of vitamin B6 and betaine. http://www.slh.wisc.edu/newborn/guide/homocystinuria.shtml

Homocystinuria Autosomal recessive amino acid disorder caused primarily by a deficiency in cystathionine synthetase enzyme activity causing the build up of the amino acid methionine in the blood. Early detection and treatment is can prevent associated mental retardation, seizures, motor development delays, weakening of bones, and venous and arterial blood clots. Prevalence (WI): 1:200,000 (general population) Analyte Measured: Methionine Reporting Ranges: Feeding Effect: None Timing Effect: 24 hours of age: Results are valid Confirmation: Immediate consult with a metabolic specialist at one of the states two metabolic treatment centers. Treatment: The treatment for homocystinuria is the dietary restriction of methionine as well as large doses of vitamin B6 and betaine. Information on treatment centers is also available on this site. For information about other screened disorders, click on the next page button, or follow one of these links:

24. Homocystinuria Management homocystinuria Background Although increased methionine is often the firstindicator of homocystinuria, the toxic metabolite is homocysteine. http://www.meadjohnson.com/metabolics/homocystinuria.html

Homocystinuria: Background Harvey Levy, M.D. Metabolic Clinic (Genetic Service), Children’s Hospital, Boston, MA Although there are several metabolic disorders in which homocystine is secreted in the urine, the major of these disorders, referred to as homocystinuria (or HCU), is due to cystathionine ß-synthase (CBS) deficiency. CBS is an enzyme involved at the branching point between transsufuration and remethylation in methionine degradation. Normally at this point, most homocysteine is converted to cystathionine and much less is remethylated back to methionine. In homocystinuria, however, inactivity of CBS prevents homocysteine from transsulfuration to cystathionine and diverts it via remethylation to methionine. Consequently, the following biochemical abnormalities occur: Increased methionine Increased homocysteine Increased homocystine (homocysteine—homocysteine) Increased mixed disulfide (homocysteine—cysteine) Decreased cystine (cysteine—cysteine) Although increased methionine is often the first indicator of homocystinuria, the toxic metabolite is homocysteine. It is not entirely known how accumulated homocysteine produces damage; the predominant concept is that it binds to cysteine residues of tissue proteins and prevents the formation of cysteine-cysteine disulfide bonding within the protein, which is critical for proper protein folding and conformation. The clinical consequences of homocystinuria are multiple and severe, including dislocation of the ocular lenses (ectopia lentis), mental retardation, skeletal abnormalities, and thromoboembolic events (1).

25. Homocystinuria homocystinuria up. Related topics http://bioresearch.ac.uk/browse/mesh/detail/C0019880L0019880.html

Homocystinuria [up] Related topics: other Cystathionine beta-Synthase Oculocerebrorenal Syndrome Cystathionine beta-synthase Cystathionine beta-synthase (CBS), is a multifunctional enzyme that catalyses beta-replacement reactions between L-serine, L-cysteine, cysteine thioethers, or some other beta-substituted alpha-L-amino acids, and a variety of mercaptans. Information is given on the CBS enzyme (metabolism, expression, structure), the CBS gene (gene map, genomic sequence, CBS polymorhisms, exon-intron junctions), and CBS mutations. Access is also provided to the CBS mutation database, which lists all CBS alleles, CpG dinucleotides in the CBS, and a map of all CBS mutations. Made available on the Web by the laboratory of Jan P. Kraus within the Department of Pediatrics at the University of Colorado Health Sciences Center. Cystathionine beta-Synthase Homocystinuria Last modified 28/Mar/2003 [Low Graphics]

26. Homocystinuria Browse forwards .. Menu. homocystinuria. Synonyms Cystathionine betasynthasedeficiency, Homocystinaemia, Homocystinemia McKusick No. 23620. 1. Physical. 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.

27. Manbir Online ... Homocystinuria homocystinuria. homocystinuria is relatively common in Ireland (1 in 60,000births) but rare elsewhere (less than 1 in 200,000 births). http://www.manbir-online.com/htm2/homocyctin.htm

Home Medi News Medical Tidbits Interesting Topics ... Ask a Question Homocystinuria Home Medi News Medical Tidbits Interesting Topics ... Ask a Question It is an inborn error of Methionine metabolism in which there is deficiency of enzyme cystathionine b -synthase Homocysteine is converted to methionine. In homocystinuria there is impaired conversion of homocysteine to methionine, The sulfur atom of the essential amino acid methionine is transferred ultimately to cysteine by the transsulfuration pathway. In one of these steps, homocysteine condenses with serine to form cystathionine. This reaction is catalyzed by the pyridoxal phosphate-dependent enzyme cystathionine b -synthase. Homocysteine and methionine accumulate in cells and body fluids; cysteine synthesis is impaired, resulting in reduced concentrations of this amino acid and its disulfide form cystine. Homocystinuria is relatively common in Ireland (1 in 60,000 births) but rare elsewhere (less than 1 in 200,000 births). This genetic defect is also seen in consanguineous marriages.

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

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Neuro-vascular Diseases Last Updated: August 30, 2002 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, University of Texas Medical Branch at Galveston Coauthor(s): Thomas A Kent, MD , Director of Cerebrovascular Research, Professor, Department of Neurology, University of Texas Medical Branch at Galveston 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

29. EMedicine - Homocystinuria : Article By Janette Baloghova, MD homocystinuria homocystinuria is an inherited autosomal recessive defect in methioninemetabolism that is caused by a deficiency in cystathionine synthase. 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, Faculty Hospital in 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

30. Health Library - Homocystinuria homocystinuria. Infants born with homocystinuria may fail to grow and gainweight (failure to thrive) and may experience developmental delays. http://www.laurushealth.com/library/healthguide/MedicalTests/topic.asp?hwid=tu21

31. Health Library - Homocystinuria homocystinuria. None. General Discussion. homocystinuria is a rare metabolic conditioncharacterized by an excess of the compound homocystine in the urine. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

32. Homocystinuria 's Home Page homocystinuria. Created By Jennifer Hranek. Hi, Welcome to my webpage This webpageis created to help others who have homocystinuria (a genetic disorder). http://www.geocities.com/EnchantedForest/Fountain/2388/

Homocystinuria Created By Jennifer Hranek Hi, Welcome to my webpage "This webpage is created to help others who have homocystinuria (a genetic disorder). I was diagnosed in 1972 by a doctor called S. Melançon at Saint Justine's Hospital Links to other sites on the Web A free e-mail with hotmail Maurais Family Webpage Homocysteine linked To Methotrexate-Induced Neurotoxicity ICQ-With ICQ, you can chat, send messages, files and URL's, play games, or just hang out (all in real time) LIVING WITH HOMOCYSTINURIA At the age of 5 years old, my kindergarden teacher noticed something was wrong with my eyes and she sent me to the eyedoctor. The eyedoctor at Saint-Justine's Hospital(a children's hospital in Montreal) had ordered some tests for me. They found out that I had " homocystinuria . Every week I had to go and get my blood tested to make sure that my homocystine levels were not high and if they were I had to increase my medication. Once the medication (Betaine) was suitable for me then I had to go every couple months. Still in elementary school, the eye doctor noticed my lenses where detaching and had to be removed. Before going through my operation (which is risky) my mother and I went for several opinions.But before they could operate on me I had to get something called

33. Page 1 HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR All Rights Reserved2001. homocystinuria. ABOUT THE AUTHOR. ABOUT THIS WEBSITE. DISEASES. HOME. http://www.geocities.com/anaivette_morales/Homocystinuria/Page_1x.html

Introduction Infancy Childhood Adulthood Continue This site is intended to complement professional advice HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR Homocystinuria ABOUT THE AUTHOR ABOUT THIS WEBSITE DISEASES HOME ... References Master's Degree Project Genetic Counseling Program Brandeis University

34. Health Library - Homocystinuria homocystinuria. Infants born with homocystinuria may fail to grow and gainweight (failure to thrive) and may experience developmental delays. http://yalenewhavenhealth.org/library/healthguide/MedicalTests/topic.asp?hwid=tu

35. Short Description Of Cell Lines. Pathology Homocystinuria * Version 4.200205, Short description of cell lines. Pathology homocystinuria*236200 OMIM record. By selecting the cell line name http://www.biotech.ist.unige.it/cldb/pat123.html

36. Short Description Of Cell Lines. Pathology: Homocystinuria - Megaloblastic Anemi Version 4.200205, Short description of cell lines. Pathology homocystinuria megaloblastic anemia *236270 OMIM record. - By selecting http://www.biotech.ist.unige.it/cldb/pat279.html

Version Short description of cell lines. Pathology: homocystinuria - megaloblastic anemia OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM human, Caucasian ... By Beatrice...

37. Homocystinuria Information Page Diseases Database homocystinuria Information Page. homocystinuria aka/or Cystathioninebetasynthase deficiency aka/or Cystathionine synthase deficiency http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=5991

38. Newborn Screening Program - Homocystinuria homocystinuria. Definition. homocystinuria Diagnosis. In Illinois, newbornscreening for homocystinuria is performed using tandem mass spectrometry. http://www.idph.state.il.us/HealthWellness/fs/homocystinuria.htm

Homocystinuria Definition Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine. Clinical Symptoms Typically the child with HCU is asymptomatic in the first few months of life. Clinical signs of HCU include developmental delay and ectopia lentis. Osteoporosis and predisposition to thromboembolism may be complications of the disorder. Newborn Screening and Definitive Diagnosis In Illinois, newborn screening for homocystinuria is performed using tandem mass spectrometry. False positive and false negative results are possible with this screening. Infants with a presumptive positive screening test require prompt follow-up and, when notified of these results, the clinician should immediately check on the clinical status of the baby and refer the infant to a metabolic disease specialist. All siblings of infants diagnosed with homocystinuria should be tested; and genetic counseling services should be offered to the family. Treatment Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with homocystinuria need life-long treatment, including a diet restricted in methionine and supplemented with cystine and medication (betaine). Folic acid and B12 supplements may be beneficial for some patients. Anticoagulants may also be indicated, but not typically for infants. Some individuals with HCU may respond to vitamin B6 (pyridoxine) supplements.

39. SAUDI EXPERIENCE WITH CLASSIC HOMOCYSTINURIA SAUDI EXPERIENCE WITH CLASSIC homocystinuria. Background Classic homocystinuria isan autosomal recessive disorder due to cystathionine b synthase deficiency. http://www.kfshrc.edu.sa/annals/183/97-298.html

SAUDI EXPERIENCE WITH CLASSIC HOMOCYSTINURIA M. Al-Essa, MD; M. Rashed, PhD ; P.T. Ozand, MD, PhD Background : Classic homocystinuria is an autosomal recessive disorder due to cystathionine b -synthase deficiency. Patients and Methods Results : The common clinical findings included ectopia lentis (20 patients), skeletal system involvement (18 patients), vascular system involvement (9 patients), and mental retardation (all patients to varying degrees). Unusual findings consisted of a patient who developed severe lower gastrointestinal bleeding, a patient with insulin-dependent diabetes mellitus, probably due to vasculopathy, and another having severe bronchiectasis, which may have been due to fibrillin disruption, and required the resection of a lobe of the lung. The parents of 21 patients were first-degree relatives, and 19 patients had one or more family members affected by the same disease. All patients had markedly elevated plasma levels of methionine. Cystathionine synthase activity in the fibroblast was measured in 25% of the patients and was deficient. Only four patients responded to pyridoxine and their methionine level decreased to almost normal range. Conclusion : The aim of this study was to increase the awareness of this disease in the scientific and medical community, in particular in the general pediatrician working in Saudi Arabia who first encounters the clinical manifestations of the disease. Early detection through tandem mass spectrometry of blood spot screening and treatment are important, and may prevent the major complications of this disease.

40. Homocystinuria homocystinuria,, Print this article, Many patients with homocystinuriahave skeletal abnormalities resembling those of Marfans syndrome. http://www.amershamhealth.com/medcyclopaedia/Volume III 1/homocystinuria.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Homocystinuria, a group of disorders characterized by inborn errors in methionine metabolism and presence of excessive homocystine in body fluids. Three different autosomal recessive genetic enzymatic defects have been described, all of which lead to neurologic, ocular and skeletal abnormalities and premature occlusive vascular disease. The most frequent physical finding is bilateral lens dislocations. Spontaneous venous and arterial thromboses are the main cause of morbidity. Venous thromboses frequently involve the mesenteric vessels, vena cava, iliac vessels and pulmonary veins. Many patients with homocystinuria have skeletal abnormalities resembling those of Marfans syndrome . Patients are tall and have disproportionately long extremities, scoliosis, pectus excavatum and joint laxity.

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