Sökning: onr:"swepub:oai:DiVA.org:kth-46846" > Adenosine Kinase De...
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000 | 05186naa a2200673 4500 | |
001 | oai:DiVA.org:kth-46846 | |
003 | SwePub | |
008 | 111107s2011 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:123371030 | |
009 | oai:DiVA.org:uu-161045 | |
009 | oai:gup.ub.gu.se/162040 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-468462 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2011.09.0042 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1233710302 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1610452 URI |
024 | 7 | a https://gup.ub.gu.se/publication/1620402 URI |
040 | a (SwePub)kthd (SwePub)kid (SwePub)uud (SwePub)gu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Bjursell, Magnus K.u Karolinska Institutet4 aut |
245 | 1 0 | a Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function |
264 | 1 | b Elsevier BV,c 2011 |
338 | a print2 rdacarrier | |
500 | a QC 20111107 | |
520 | a Four inborn errors of metabolism (IEMs) are known to cause hypermethioninemia by directly interfering with the methionine cycle. Hypermethioninemia is occasionally discovered incidentally, but it is often disregarded as an unspecific finding, particularly if liver disease is involved. In many individuals the hypermethioninemia resolves without further deterioration, but it can also represent an early sign of a severe, progressive neurodevelopmental disorder. Further investigation of unclear hypermethioninemia is therefore important. We studied two siblings affected by severe developmental delay and liver dysfunction. Biochemical analysis revealed increased plasma levels of methionine, S-adenosylmethionine (Ado Met), and S-adenosylhomocysteine (AdoHcy) but normal or mildly elevated homocysteine (Hcy) levels, indicating a block in the methionine cycle. We excluded S-adenosylhomocysteine hydrolase (SAHH) deficiency, which causes a similar biochemical phenotype, by using genetic and biochemical techniques and hypothesized that there was a functional block in the SAHH enzyme as a result of a recessive mutation in a different gene. Using exome sequencing, we identified a homozygous c.902C>A (p.Ala301Glu) missense mutation in the adenosine kinase gene (ADK), the function of which fits perfectly with this hypothesis. Increased urinary adenosine excretion confirmed ADK deficiency in the siblings. Four additional individuals from two unrelated families with a similar presentation were identified and shown to have a homozygous c.653A>C (p.Asp218Ala) and c.38G>A (p.Gly13Glu) mutation, respectively, in the same gene. All three missense mutations were deleterious, as shown by activity measurements on recombinant enzymes. ADK deficiency is a previously undescribed, severe IEM shedding light on a functional link between the methionine cycle and adenosine metabolism. | |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaper0 (SwePub)3012 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicine0 (SwePub)3012 hsv//eng |
653 | a s-adenosylhomocysteine hydrolase | |
653 | a enzymatic defect | |
653 | a mammalian-cells | |
653 | a homocysteine | |
653 | a metabolism | |
700 | 1 | a Blom, Henk J.4 aut |
700 | 1 | a Asin-Cayuela, Jorge4 aut |
700 | 1 | a Engvall, Martin L.u Karolinska Institutet4 aut |
700 | 1 | a Lesko, Nicoleu Karolinska Institutet4 aut |
700 | 1 | a Balasubramaniam, Shanti4 aut |
700 | 1 | a Brandberg, Goran4 aut |
700 | 1 | a Halldin, Mariau Uppsala universitet,Pediatrik4 aut0 (Swepub:uu)marihall |
700 | 1 | a Falkenberg, Maria,d 1968u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine4 aut0 (Swepub:gu)xfamar |
700 | 1 | a Jakobs, Cornelis4 aut |
700 | 1 | a Smith, Desiree4 aut |
700 | 1 | a Struys, Eduard4 aut |
700 | 1 | a von Dobeln, Ulrikau Karolinska Institutet4 aut |
700 | 1 | a Gustafsson, Claes M,d 1966u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine4 aut0 (Swepub:gu)xgucla |
700 | 1 | a Lundeberg, Joakimu KTH,Science for Life Laboratory, SciLifeLab,Genteknologi4 aut0 (Swepub:kth)u1qkn9kw |
700 | 1 | a Wedell, Annau Karolinska Institutet4 aut |
710 | 2 | a Karolinska Institutetb Pediatrik4 org |
773 | 0 | t American Journal of Human Geneticsd : Elsevier BVg 89:4, s. 507-515q 89:4<507-515x 0002-9297x 1537-6605 |
856 | 4 | u http://www.cell.com/article/S0002929711003946/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-46846 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2011.09.004 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:123371030 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-161045 |
856 | 4 8 | u https://gup.ub.gu.se/publication/162040 |
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