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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

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
    
    Extractions: 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
    
    Extractions: 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.

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
    
    Extractions: 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
    
    Extractions: 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

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
    
    Extractions: Metabolic pathway illustrated Browse backwards Browse forwards Menu Homocystinuria Synonyms Cystathionine beta-synthase deficiency, Homocystinaemia, Homocystinemia McKusick No. 1. Physical 2. Neurological 3. Gastrointestinal 4. Renal 5. Bone 6. Comment 7. Haematological 8. Biochemical Treatment (a)Restricted intake of methionine plus cystine supplements.

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
    
    Extractions: 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).

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
    
    Extractions: 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
    
    Extractions: (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 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/
    
    Extractions: 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.

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

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

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
    
    Extractions: 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. 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. 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. 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
    
    Extractions: 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
    
    Extractions: *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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