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Sökning: onr:"swepub:oai:DiVA.org:umu-108133" > Mudd's disease (MAT...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005295naa a2200805 4500
001oai:DiVA.org:umu-108133
003SwePub
008150904s2015 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1081332 URI
0247 a https://doi.org/10.1186/s13023-015-0321-y2 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Chien, Yin-Hsiu4 aut
2451 0a Mudd's disease (MAT I/III deficiency) :b a survey of data for MAT1A homozygotes and compound heterozygotes
264 c 2015-08-20
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
7001 a Abdenur, Jose E.4 aut
7001 a Baronio, Federico4 aut
7001 a Bannick, Allison Anne4 aut
7001 a Corrales, Fernando4 aut
7001 a Couce, Maria4 aut
7001 a Donner, Markus G.4 aut
7001 a Ficicioglu, Can4 aut
7001 a Freehauf, Cynthia4 aut
7001 a Frithiof, Deborahu Umeå universitet,Pediatrik4 aut0 (Swepub:umu)defr0001
7001 a Gotway, Garrett4 aut
7001 a Hirabayashi, Koichi4 aut
7001 a Hofstede, Floris4 aut
7001 a Hoganson, George4 aut
7001 a Hwu, Wuh-Liang4 aut
7001 a James, Philip4 aut
7001 a Kim, Sook4 aut
7001 a Korman, Stanley H.4 aut
7001 a Lachmann, Robin4 aut
7001 a Levy, Harvey4 aut
7001 a Lindner, Martin4 aut
7001 a Lykopoulou, Lilia4 aut
7001 a Mayatepek, Ertan4 aut
7001 a Muntau, Ania4 aut
7001 a Okano, Yoshiyuki4 aut
7001 a Raymond, Kimiyo4 aut
7001 a Rubio-Gozalbo, Estela4 aut
7001 a Scholl-Buergi, Sabine4 aut
7001 a Schulze, Andreas4 aut
7001 a Singh, Rani4 aut
7001 a Stabler, Sally4 aut
7001 a Stuy, Mary4 aut
7001 a Thomas, Janet4 aut
7001 a Wagner, Conrad4 aut
7001 a Wilson, William G.4 aut
7001 a Wortmann, Saskia4 aut
7001 a Yamamoto, Shigenori4 aut
7001 a Pao, Maryland4 aut
7001 a Blom, Henk J.4 aut
7102 a Umeå universitetb Pediatrik4 org
7730 t Orphanet Journal of Rare Diseasesd : Springer Science and Business Media LLCg 10q 10x 1750-1172
8564 u https://doi.org/10.1186/s13023-015-0321-yy Fulltext
8564 u https://umu.diva-portal.org/smash/get/diva2:855515/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-015-0321-y
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-108133
8564 8u https://doi.org/10.1186/s13023-015-0321-y

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