Aminoacidopatie; Fenylketonurie, homocystinurie a leucinóza

AMK

biosyntéza

katabolismus

poruchy

• Aminoacidopatie
  Aminokyseliny
  Fenylketonurie (PKU)
  Leucinóza (MSUD = maple syrup urine disease)
  Homocystinurie
  Zdroje literatury

• Vodrážka Zdeněk – Biochemie 2
• Koolman J., Roehm K. H –Color atlas of biochemistry, 2005 Georg Thieme Verlag, ISBN 1-
• 58890-247-1
• Murray R. K., Bender D. A. … - Harper’s illustrated biochemistry, 2009 The McGraw-Hill
• Companies, ISBN 978-0-07-162591-3
• Články:
• A new HPLC method for the simultaneous determination of oxidized and reduced
• plasma aminothiols using coulometric electrochemical detection
• The Journal of Nutritional Biochemistry, Volume 10, Issue 8, Pages 490-497
• Determination of different species of homocysteine in human plasma by highperformance
• liquid chromatography with ultraviolet detection
• Journal of Chromatography A
• Volume 949, Issues 1-2, 8 March 2002, Pages 141-151
• Keith F. Widaman. Phenylketonuria in children and mothers: Genes, envoroments,
• behaviors http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2705125/?tool=pubmed
• M.P.A. Hoeks,M. den Heijer,M.C.H. Janssen. Adult issues in phenylketonuria:
• http://www.zuidencomm.nl/njm/getpdf.php?id=10000403
• Robin A. Williams, Cyril DS Mamotte, John R. Burnett. Phenylketonuria: an inborn error of
• phenylalanin metabolism:
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317/?tool=pubmed
• K. Michals-Matalon, G. Bathia…. Response of phenylketonuria to tetrahydrobiopterin:
• http://jn.nutrition.org/cgi/reprint/137/6/1564S
• William J. Zinnanati, Jelena Lazovic…. Dual mechanism of brain Indry and novel treatment
• strategy in maple syrup urine disease:
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668944/?tool=pubmed
• D. Holmes Morton, Kevin A. Strauss… Diagnosis and treatment of maple syrup urine
• dinase: http://pediatrics.aappublications.org/cgi/reprint/109/6/999
• Aletheá G. Barschak, Christiane Marchesan… Maple syrup urine dinase in treated patiens:
• Biochemical and oxidative stress profiles:
• http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6TDD-4R8WK1B-
• 3&_user=640852&_coverDate=03%2F31%2F2008&_rdoc=1&_fmt=high&_orig=search&_sort
• =d&_docanchor=&view=c&_acct=C000032310&_version=1&_urlVersion=0&_userid=640852
• &md5=7df4d735ed7c05e9c866eb80fc8cd7b9
• ]Homocystinuria due to cysthation beta synthese deficiency
• http://www.ijdvl.com/text.asp?2008/74/4/375/42916
• Jánošík Miroslav, Sokolová Jitka… Birth prevalence of homocystinuria in Central Europe:
• … http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653617/?tool=pubmed
• Další internetové stránky:
• http://www.nspku.cz/nemoci/homocystinurie.html
• http://www.novorozeneckyscreening.cz/res/file/act-sheets/MSUD.pdf
• http://lekarske.slovniky.cz/