Sökning: WFRF:(Korman Stanley H) > Okano Yoshiyuki > Mudd's disease (MAT...
Fältnamn | Indikatorer | Metadata |
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000 | 05295naa a2200805 4500 | |
001 | oai:DiVA.org:umu-108133 | |
003 | SwePub | |
008 | 150904s2015 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1081332 URI |
024 | 7 | a https://doi.org/10.1186/s13023-015-0321-y2 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Chien, Yin-Hsiu4 aut |
245 | 1 0 | a Mudd's disease (MAT I/III deficiency) :b a survey of data for MAT1A homozygotes and compound heterozygotes |
264 | c 2015-08-20 | |
264 | 1 | b Springer Science and Business Media LLC,c 2015 |
338 | a electronic2 rdacarrier | |
520 | a Background: This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of methionine and ATP to S-adenosylmethionine (AdoMet). Subnormal MAT I/III activity leads to hypermethioninemia. Individuals, with hypermethioninemia due to one of the MAT1A mutations that in heterozygotes cause relatively mild and clinically benign hypermethioninemia are currently often being flagged in screening programs measuring methionine elevation to identify newborns with defective cystathionine beta-synthase activity. Homozygotes or compound heterozygotes for MAT1A mutations are less frequent. Some but not all, such individuals have manifested demyelination or other CNS abnormalities. Purpose of the study: The goals of the present effort have been to determine the frequency of such abnormalities, to find how best to predict whether they will occur, and to evaluate the outcomes of the variety of treatment regimens that have been used. Data have been gathered for 64 patients, of whom 32 have some evidence of CNS abnormalities (based mainly on MRI findings), and 32 do not have such evidence. Results and Discussion: The results show that mean plasma methionine concentrations provide the best indication of the group into which a given patient will fall: those with means of 800 mu M or higher usually have evidence of CNS abnormalities, whereas those with lower means usually do not. Data are reported for individual patients for MAT1A genotypes, plasma methionine, total homocysteine (tHcy), and AdoMet concentrations, liver function studies, results of 15 pregnancies, and the outcomes of dietary methionine restriction and/or AdoMet supplementation. Possible pathophysiological mechanisms that might contribute to CNS damage are discussed, and tentative suggestions are put forth as to optimal management. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng |
700 | 1 | a Abdenur, Jose E.4 aut |
700 | 1 | a Baronio, Federico4 aut |
700 | 1 | a Bannick, Allison Anne4 aut |
700 | 1 | a Corrales, Fernando4 aut |
700 | 1 | a Couce, Maria4 aut |
700 | 1 | a Donner, Markus G.4 aut |
700 | 1 | a Ficicioglu, Can4 aut |
700 | 1 | a Freehauf, Cynthia4 aut |
700 | 1 | a Frithiof, Deborahu Umeå universitet,Pediatrik4 aut0 (Swepub:umu)defr0001 |
700 | 1 | a Gotway, Garrett4 aut |
700 | 1 | a Hirabayashi, Koichi4 aut |
700 | 1 | a Hofstede, Floris4 aut |
700 | 1 | a Hoganson, George4 aut |
700 | 1 | a Hwu, Wuh-Liang4 aut |
700 | 1 | a James, Philip4 aut |
700 | 1 | a Kim, Sook4 aut |
700 | 1 | a Korman, Stanley H.4 aut |
700 | 1 | a Lachmann, Robin4 aut |
700 | 1 | a Levy, Harvey4 aut |
700 | 1 | a Lindner, Martin4 aut |
700 | 1 | a Lykopoulou, Lilia4 aut |
700 | 1 | a Mayatepek, Ertan4 aut |
700 | 1 | a Muntau, Ania4 aut |
700 | 1 | a Okano, Yoshiyuki4 aut |
700 | 1 | a Raymond, Kimiyo4 aut |
700 | 1 | a Rubio-Gozalbo, Estela4 aut |
700 | 1 | a Scholl-Buergi, Sabine4 aut |
700 | 1 | a Schulze, Andreas4 aut |
700 | 1 | a Singh, Rani4 aut |
700 | 1 | a Stabler, Sally4 aut |
700 | 1 | a Stuy, Mary4 aut |
700 | 1 | a Thomas, Janet4 aut |
700 | 1 | a Wagner, Conrad4 aut |
700 | 1 | a Wilson, William G.4 aut |
700 | 1 | a Wortmann, Saskia4 aut |
700 | 1 | a Yamamoto, Shigenori4 aut |
700 | 1 | a Pao, Maryland4 aut |
700 | 1 | a Blom, Henk J.4 aut |
710 | 2 | a Umeå universitetb Pediatrik4 org |
773 | 0 | t Orphanet Journal of Rare Diseasesd : Springer Science and Business Media LLCg 10q 10x 1750-1172 |
856 | 4 | u https://doi.org/10.1186/s13023-015-0321-yy Fulltext |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:855515/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-015-0321-y |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-108133 |
856 | 4 8 | u https://doi.org/10.1186/s13023-015-0321-y |
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