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

61. NEJM -- Heterozygosity For Homocystinuria In Premature Peripheral And Cerebral O
Original Article from The New England Journal of Medicine Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.
http://content.nejm.org/cgi/content/abstract/313/12/709
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 313:709-715 September 19, 1985 Number 12 Next Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease
GH Boers, AG Smals, FJ Trijbels, B Fowler, JA Bakkeren, HC Schoonderwaldt, WJ Kleijer, and PW Kloppenborg
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  • Toole, J. F., Malinow, M. R., Chambless, L. E., Spence, J. D., Pettigrew, L. C., Howard, V. J., Sides, E. G., Wang, C.-H., Stampfer, M. (2004). Lowering Homocysteine in Patients With Ischemic Stroke to Prevent Recurrent Stroke, Myocardial Infarction, and Death: The Vitamin Intervention for Stroke Prevention (VISP) Randomized Controlled Trial. JAMA [Abstract] [Full Text]
  • Harjai, K. J. (1999). Potential New Cardiovascular Risk Factors: Left Ventricular Hypertrophy, Homocysteine, Lipoprotein(a), Triglycerides, Oxidative Stress, and Fibrinogen. Ann Intern Med [Abstract] [Full Text]
  • Nachman, R. L., Silverstein, R. (1993). Hypercoagulable States.

62. NEJM -- Coexistence Of Hereditary Homocystinuria And Factor V Leiden -- Effect O
Original Article from The New England Journal of Medicine Coexistence of Hereditary homocystinuria and Factor V Leiden Effect on Thrombosis.
http://content.nejm.org/cgi/content/short/334/12/763
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 334:763-768 March 21, 1996 Number 12 Next
Hanna Mandel, M.D., Benjamin Brenner, M.D., Moshe Berant, M.D., Nurith Rosenberg, Ph.D., Naomi Lanir, Ph.D., Cornelis Jakobs, Ph.D., Brian Fowler, Ph.D., and Uri Seligsohn, M.D.
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ABSTRACT Background Venous and arterial thromboembolism occurs in only about one third of patients homozygous for homocystinuria, which suggests that other, contributory factors are necessary for the development of thrombosis in these patients. Factor V Leiden, an R506Q mutation in the gene coding for factor V, is the most common cause of familial thrombosis and could be a potentiating factor. Methods We determined activated partial-thromboplastin times in the presence and absence of activated protein C and tested for the factor V Leiden mutation in 45 members of seven unrelated consanguineous kindreds in which at least 1 member was homozygous for homocystinuria.

63. Homocystinuria
homocystinuria There is considerable clinical heterogeneity in the classical form of homocystinuria, due to deficiency of cystathionine asynthetase.
http://www.sas-centre.org/genetic/genpages/aadisordhomocystinuria.html
Homocystinuria
There is considerable clinical heterogeneity in the classical form of homocystinuria, due to deficiency of cystathionine a -synthetase. Symptoms include dislocation of the optic lens, mental retardation, osteoporosis, arterial or venous thrombosis, generalised convulsions and fits, but the severity of these varies considerably between patients.
Enzyme Tests: Cystathionine b -synthetase is assayed to diagnose this disorder.

64. Gimenei >> Health >> Conditions_and_Diseases >> Neurological_Disorders >> Brain_
Gimenei.com, Search for Scope All Words, Results per page 10. Request Timeout 2,
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Health Conditions and Diseases Neurological Disorders ... Metabolic Homocystinuria Homocysteine Center - HeartCenterOnline
American Heart Association member edited encyclopedia - the most comprehensive resource dedicated exclusively to heart health: cardiology encyclopedia, news, community, animations and more.

65. NORD - Homocystinuria
Condition or Disease, homocystinuria. Phone number, 1800-999-6673. Who is eligible, Coverage is limited to individuals with homocystinuria. There is no income cap.
http://www.pharmhelp.info/NORD-Homocystinuria.html
National Organization for Rare Diseases, Inc. (NORD) - Cystadane Patient Assistance Program Condition or Disease Homocystinuria Phone number What is covered Cystadane (betaine anhydrous oral solution) Who is eligible Coverage is limited to individuals with Homocystinuria. There is no income cap. Company uses financial means to determine level of assistance. Who must apply Patient and Physician / Licensed Practitioner Where to apply Please contact NORD at 1-800-999-6673 for application and enrollment information. Link to organization website www.rarediseases.org Important notes Not Applicable

66. Homocystinuria,Homocystinemia,Homocystinuria,Homocystinemia
homocystinuria homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine.
http://www.icomm.ca/geneinfo/homocyst.htm
Homocystinuria,Homocystinemia,Homocystinuria,Homocystinemia
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DISORDERS GLOSSARY Homocystinuria
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National Organization for Rare Disorders

also known as:
Homocystinemia
Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. The condition may result from deficiency of any of several enzymes involved in the conversion of the essential amino acid methionine to another amino acid (cysteine)or, less commonly, impaired conversion of the compound homocysteine to methionine. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development.
In most cases, Homocystinuria is caused by reduced activity of an enzyme known as cystathionine beta-synthase (CBS). Due to deficiency of the CBS enzyme, infants with Homocystinuria may fail to grow and gain weight at the expected rate (failure to thrive) and have developmental delays.

67. :: Ez2Find :: Homocystinuria
Guide homocystinuria, Global Metasearch Any Language Guides, homocystinuria. ez2Find Home Directory Health
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68. Homocystinuria
NORD homocystinuria - Offers alternative names, a general discussion and further resources. Pediatric Database - A definition
http://www.thenewhealthfind.com/Health/ConditionsandDiseases/NeurologicalDisorde
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69. Disease - Homocystinuria - Hartford, Connecticut , Saint Francis Care
Disease homocystinuria - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart disease
http://www.saintfranciscare.com/12465.cfm
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Disease - Homocystinuria
Pectus excavatum Definition: Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Alternative Names: Cystathionine beta synthase deficiency Causes And Risk: 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.

70. Startplane /Health/Conditions_and_Diseases/Neurological_Disorders/Brain_Diseases
homocystinuria. See also homocystinuria An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program.
http://www.startplane.com/Health/Conditions_and_Diseases/Neurological_Disorders/
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See also: Links
  • Drkoop: Medical Encyclopedia: Homocystinuria - An in depth look at this disorder, including a definition, the causes and risk factors, symptoms, prevention, complications, prognosis, diagnosis and treatment. Homocystinuria - An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program. NORD: Homocystinuria - Offers alternative names, a general discussion and further resources. Pediatric Database - A definition of homocystinuria, followed by epidemiology, pathogenesis, clinical features, investigations and management.
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71. Short Description Of Cell Lines. Pathology: Homocystinuria *236200
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
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Pathology: homocystinuria
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human, Caucasian
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72. 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
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Pathology: homocystinuria - megaloblastic anemia
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human, Caucasian
skin, fibroblast GEIMM
human, Caucasian
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By Beatrice...

73. Dr. Rose's Peripheral Brain--HOMOCYSTINURIA
homocystinuria. Hyperhomocystinemia and homocystinuria result from various enzyme defects (homozygotes heterozygotes) or vitamin cofactor deficiencies;
http://faculty.washington.edu/momus/PB/homocyst.htm
HOMOCYSTINURIA
I. Biochemistry and pathophysiology
  • Homocysteine is an intermediate in metabolism of methionine, an essential amino acid. Methionine serves as a methyl group donator for the synthesis of a variety of important biochemical intermediates (purines, thymine, creatine, etc.) In donating its methyl group it is converted to S-adenosyl-homocysteine which is then converted to homocysteineserves 2 functions: Can accept a methyl froup from folic acid to regenerate methionine (requires cobalamin) Can be converted to cystathionine and then to cysteine, another amino acid (requires pyridoxine) Hyperhomocysteinemia is strongly associated premature atherosclerosis and venous thromboembolism (Physician's Health Study, Framingham Heart Study) ; possibly also lens dislocation, skeletal abnormalities, and mental retardation
  • II. Treatment to reduce plasma homocysteine concentrations and hopefully avoid complications

    74. Alexa Web Search - Subjects > Health > ... > Brain Diseases > Metabolic > Homocy
    Drkoop Medical Encyclopedia homocystinuria An in depth look at this disorder, including a definition, the causes and risk factors, symptoms, prevention
    http://www.alexa.com/browse/general?catid=526721&mode=general

    75. Homocystinuria: Challenges In Diagnosis And Management
    Translate this page November/December 1999, Volume 4, Number 8 557-562. homocystinuria Challenges in diagnosis and management. Two patients with homocystinuria are discussed.
    http://www.pulsus.com/Paeds/04_08/garl_ed.htm

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    Case Report November/December 1999, Volume 4, Number 8: 557-562
    Homocystinuria: Challenges in diagnosis and management
    J Garland, A Prasad, C Vardy, C Prasad Key Words: Attention deficit hyperactivity disorder; Cystathionine beta-synthase deficiency; Developmental delay; Homocystinuria; Lens dislocation Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail Pdf Format - Registered users can view the complete article in Pdf format. REGISTERED USERS LOGIN REGISTER NOW! Des défis en matière de diagnostic et de traitement Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail

    76. Specialty Laboratories ::: We Help Doctors Help Patients
    Print View. homocystinuria Wayne W. Grody, MD, Ph.D. One of the more familiar inborn errors of amino acid metabolism, homocystinuria, an autosomal recessive
    http://www.specialtylabs.com/books/display.asp?id=1145

    77. DiseaseSeek.com Homocystinuria
    homocystinuria profile http//www.tylerforlife.com/Disorders/homocystinuria.htm An article about disorder, as to what it is, the symptoms, how it is
    http://www.diseaseseek.com/categories/Health__Conditions_and_Diseases__Neurologi
    @import url(http://www.animationseek.com/style.css); Search Directory Forum Conditions and Diseases Neurological Disorders Brain Diseases Metabolic ... Homocystinuria - Found 3 sites about Homocystinuria
    • Homocystinuria profile http://www.tylerforlife.com/Disorders/homocystinuria.htm
      An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program.
    • NORD: Homocystinuria profile http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Homocystinuria
      Offers alternative names, a general discussion and further resources.
    • Pediatric Database profile http://www.icondata.com/health/pedbase/files/HOMOCYST.HTM
      A definition of homocystinuria, followed by epidemiology, pathogenesis, clinical features, investigations and management.
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    78. Homocystinuria
    homocystinuria. Definition. homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET).
    http://www.sbrmc.com/html_healthgate/html/0_117/11776.php
    Homocystinuria
    Definition
    Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET). Amino acids are the building blocks of protein. Homocystinuria occurs in approximately 1 in 100,000 people. People with homocystinuria lack enzymes that the body needs to properly break down the sulfur-containing amino acid methionine. A deficiency in any of several enzymes can lead to the disorder. In the most common form of the disorder, there is a deficiency of the enzyme cystathionine synthetase. Due to the enzyme deficiency, the body cannot properly metabolize MET and homocysteine. The result is impaired growth, development, and tissue repair. A form of the excess homocysteine appears in the urine and blood.
    Causes
    Risk Factors
    A risk factor is something that increases your chances of getting a disease or condition. A child is only at risk for this disorder if both parents are carriers of the faulty gene that causes it. If both parents carry the faulty gene, for each child, there is a:
    • 25% chance the child will be born with the disorder 50% chance the child will be a carrier of the faulty gene
    Symptoms
    The number and severity of symptoms varies among people. They include:

    79. Health Topics
    homocystinuria. by Rick Alan. Definition. homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET).
    http://lpig.doereport.com/healthtopics.php?&A=65077&I=1130&article=11776

    80. Health - Conditions And Diseases - Neurological Disorders - Brain
    Top Health Conditions and Diseases Neurological Disorders Brain Diseases Metabolic homocystinuria See also Health Conditions
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