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Sökning: onr:"swepub:oai:DiVA.org:kth-46846" > Adenosine Kinase De...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005186naa a2200673 4500
001oai:DiVA.org:kth-46846
003SwePub
008111107s2011 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:123371030
009oai:DiVA.org:uu-161045
009oai:gup.ub.gu.se/162040
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-468462 URI
0247 a https://doi.org/10.1016/j.ajhg.2011.09.0042 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1233710302 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1610452 URI
0247 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 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Bjursell, Magnus K.u Karolinska Institutet4 aut
2451 0a Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
264 1b 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 7a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaper0 (SwePub)3012 hsv//swe
650 7a 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
7001 a Blom, Henk J.4 aut
7001 a Asin-Cayuela, Jorge4 aut
7001 a Engvall, Martin L.u Karolinska Institutet4 aut
7001 a Lesko, Nicoleu Karolinska Institutet4 aut
7001 a Balasubramaniam, Shanti4 aut
7001 a Brandberg, Goran4 aut
7001 a Halldin, Mariau Uppsala universitet,Pediatrik4 aut0 (Swepub:uu)marihall
7001 a Falkenberg, Maria,d 1968u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine4 aut0 (Swepub:gu)xfamar
7001 a Jakobs, Cornelis4 aut
7001 a Smith, Desiree4 aut
7001 a Struys, Eduard4 aut
7001 a von Dobeln, Ulrikau Karolinska Institutet4 aut
7001 a Gustafsson, Claes M,d 1966u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine4 aut0 (Swepub:gu)xgucla
7001 a Lundeberg, Joakimu KTH,Science for Life Laboratory, SciLifeLab,Genteknologi4 aut0 (Swepub:kth)u1qkn9kw
7001 a Wedell, Annau Karolinska Institutet4 aut
7102 a Karolinska Institutetb Pediatrik4 org
7730 t American Journal of Human Geneticsd : Elsevier BVg 89:4, s. 507-515q 89:4<507-515x 0002-9297x 1537-6605
8564 u http://www.cell.com/article/S0002929711003946/pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-46846
8564 8u https://doi.org/10.1016/j.ajhg.2011.09.004
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:123371030
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-161045
8564 8u https://gup.ub.gu.se/publication/162040

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