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Urea Cycle Disorders:     more detail

Urea cycle disorders: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Julianne Remington, 2005 Congenital disorders of the urea cycle and ammonia detoxication (Monographs in paediatrics) by Jean Pierre Colombo, 1971 The Pediatrician's Guide to Ornithine Transcarbamylase Deficiency . . . and other Urea Cycle Disorders (The National Organization for Rare Disorders, NORD Guides for Physicians #2) by The National Organization for Rare Disorders, 1999 Inherited disorders of the urea cycle by George K Summer, 1973 CONGENIAL DISORDERS OF THE UREA CYCLE AND AMMONIA DETOXICATION( Monographs in Pediatrics) by J.P. Colombo, 1971 Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I by Jean-Pierre Colombo, 1971-01-01 Urea Cycle Diseases (Advances in Experimental Medicine & Biology)

lists with details

81. Pioneering Procedure Eases Child's Rare Blood Disorder
    bloodstream much more quickly. Because urea cycle disorders so rarely occur, the innovative technique has only been used four times since.  
    http://www.mc.vanderbilt.edu/reporter/?ID=718

82. NetDoctor.co.uk - Information About Drugs For Patients
    This action is useful in patients with urea cycle disorders. In urea cycle disorders, the conversion to urea cannot take place and ammonia accumulates.  
    http://www.netdoctor.co.uk/medicines/showpreparation.asp?id=4258

83. Disease Directory : What Is A Urea Cycle Disorder?
    Diseases Genetic disorders urea cycle What is a urea cycle Disorder? Directory Listing. Title What is a urea cycle Disorder?  
    http://www.diseasedirectory.net/detailed/25781.aspx

84. Genetic Disorders, Urea Cycle
    Category Home Health Conditions and Diseases Genetic disorders urea cycle. * Site Title · The name of the site. (eg, National Association of Health).  
    http://www.iseekhealth.com/directory/index.php?method=show_link_exchange&directo

85. TriButyrate® And Urea Cycle Disorder Research
    INBORN ERRORS OF urea SYNTHESIS (urea cycle DISORDER). triButyrate® was originally developed in the mid 1980 s by triple crown america  
    http://www.tributyrate.com/html/urea_cycle_disorder.html
    
    Extractions: Inborn errors of Urea Synthesis are rare and belong to the larger group of disorders of amino acid metabolism, which are genetically determined and caused by enzyme defects. The most well known disorder in the larger group is phenylketonuria (PKU), characterized by an accumulation of the amino acid phenylalanine, which frequently results in mental and psychomotor retardation, if not treated.

86. Urea Cycle Disorder
    Home Up . Click Here! urea cycle Disorder. Click Here! Musice.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch  
    http://www.health-server.com/urea_cycle_disorder.htm

87. Genetic And Rare Diseases Information Center - Office Of Rare Diseases
    or email GARDinfo@nih.gov. Disease Inborn urea cycle disorder. This page is still under construction. New links are being added  
    http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=6775

88. Disease Descriptions
    s. All the following diseases and conditions are currently detectable through newborn screening. this list of the disorders we advocate Click here. Unclassified Fatty Acid Oxidation disorders ( UFAOD) Very-Long-Chain - These disorders do not currently fit the Save BabiesSearch Our Site! Disease  
    http://www.savebabies.org/diseasedescriptions.htm

89. Ureasyklin Sairaudet
    Kehitysvammahuollon tietopankki. Ammoniakin kertyminen vereen. Ureasyklin sairaudet. Ureasyklin vauriot johtavat vaikeisiin sairauksiin  
    http://www.saunalahti.fi/kup/syndroma/ureasykl.htm
    
    Extractions: Ureasyklin vauriot johtavat vaikeisiin sairauksiin, joita luonnehtii ammoniakin kertyminen vereen. Tällaiset taudit voivat aiheuttaa häiriökäyttäytymistä, psyykkistä kehitysvammaisuutta, koomaa ja jopa ennenaikaisen kuoleman. Ureasykli on entsyymijärjestelmä, joka muuntaa aminohappoaineenvaihdunnan tuottaman ammoniakin virtsaksi. Ureasyklin entsyymejä on useita. Joihinkin perinnöllisiin sairauksiin liittyy niiden kemiallisen rakenteen muuttuminen. Ammoniakkikertymän muodostuminen myrkyttää verenkierron kautta mm. hermostoa. Hyvin harvinainen Argininemia-sairaus - maailmassa tunnetaan vain muutakymmentä sairastunutta - aiheutuu 6. kromosomin arginase-nimisen geenin (6q23) vaurioitumisesta. Tauti on vallitsevasti periytyvä Argininemia ilmenee ensimmäisten elinkuukausien tai -vuosien aikana. Siihen kuuluu laaja oireisto, mm. lisääntyvä kömpelyys puhekyvyn menetys, vähitellen vaikeutuva kehitysvammaisuus ja pakkoliikkeitä sekä epileptisiä kohtauksia.

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