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Pregled bibliografske jedinice broj: 814068

Liver transplantation for treatment of severe S- adenosylhomocysteine hydrolase deficiency

Strauss, Kevin A.; Ferreira, Carlos; Bottiglieri, Teodoro; Zhao, Xueqing; Arning, Erland; Zhang, Shucha; Zeisel, Steven H.; Escolar, Maria L.; Presnick, Nancy; Puffenberger, Erik G. et al.
Liver transplantation for treatment of severe S- adenosylhomocysteine hydrolase deficiency // Molecular genetics and metabolism, 116 (2015), 1-2; 44-52 doi:10.1016/j.ymgme.2015.06.005 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 814068 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Liver transplantation for treatment of severe S- adenosylhomocysteine hydrolase deficiency

Autori
Strauss, Kevin A. ; Ferreira, Carlos ; Bottiglieri, Teodoro ; Zhao, Xueqing ; Arning, Erland ; Zhang, Shucha ; Zeisel, Steven H. ; Escolar, Maria L. ; Presnick, Nancy ; Puffenberger, Erik G. ; Vugrek, Oliver ; Kovačević, Lucija ; Wagner, Conrad ; Mazariegos, George V. ; Mudd, S. Harvey ; Soltys, Kyle

Izvornik
Molecular genetics and metabolism (1096-7192) 116 (2015), 1-2; 44-52

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
transsulfuration; methyltransferases; S-adenosylhomocysteine; liver transplantation

Sažetak
A child with severe S-adenosylhomocysteine hydrolase (AHCY) deficiency (AHCY c.428A > G, p.Tyr143Cys ; c.982 T > G, p.Tyr328Asp) presented at 8 months of age with growth failure, microcephaly, global developmental delay, myopathy, hepatopathy, and factor VII deficiency. Plasma methionine, S-adenosylmethionine (AdoMet), and S-adenosylhomocysteine (AdoHcy) were markedly elevated and the molar concentration ratio of AdoMet:AdoHcy, believed to regulate a myriad of methyltransferase reactions, was 15% of the control mean. Dietary therapy failed to normalize biochemical markers or alter the AdoMet to AdoHcy molar concentration ratio. At 40 months of age, the proband received a liver segment from a healthy, unrelated living donor. Mean AdoHcy decreased 96% and the AdoMet:AdoHcy concentration ratio improved from 0.52 ± 0.19 to 1.48 ± 0.79 mol:mol (control 4.10 ± 2.11 mol:mol). Blood methionine and AdoMet were normal and stable during 6 months of follow-up on an unrestricted diet. Average calculated tissue methyltransferase activity increased from 43 ± 26% to 60 ± 22%, accompanied by signs of increased transmethylation in vivo. Factor VII activity increased from 12% to 100%. During 6 postoperative months, head growth accelerated 4-fold and the patient made promising gains in gross motor, language, and social skills.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Institut "Ruđer Bošković", Zagreb

Profili:

Avatar Url Oliver Vugrek (autor)

Poveznice na cjeloviti tekst rada:

doi www.sciencedirect.com

Citiraj ovu publikaciju:

Strauss, Kevin A.; Ferreira, Carlos; Bottiglieri, Teodoro; Zhao, Xueqing; Arning, Erland; Zhang, Shucha; Zeisel, Steven H.; Escolar, Maria L.; Presnick, Nancy; Puffenberger, Erik G. et al.
Liver transplantation for treatment of severe S- adenosylhomocysteine hydrolase deficiency // Molecular genetics and metabolism, 116 (2015), 1-2; 44-52 doi:10.1016/j.ymgme.2015.06.005 (međunarodna recenzija, članak, znanstveni)
Strauss, K., Ferreira, C., Bottiglieri, T., Zhao, X., Arning, E., Zhang, S., Zeisel, S., Escolar, M., Presnick, N. & Puffenberger, E. (2015) Liver transplantation for treatment of severe S- adenosylhomocysteine hydrolase deficiency. Molecular genetics and metabolism, 116 (1-2), 44-52 doi:10.1016/j.ymgme.2015.06.005.
@article{article, author = {Strauss, Kevin A. and Ferreira, Carlos and Bottiglieri, Teodoro and Zhao, Xueqing and Arning, Erland and Zhang, Shucha and Zeisel, Steven H. and Escolar, Maria L. and Presnick, Nancy and Puffenberger, Erik G. and Vugrek, Oliver and Kova\v{c}evi\'{c}, Lucija and Wagner, Conrad and Mazariegos, George V. and Mudd, S. Harvey and Soltys, Kyle}, year = {2015}, pages = {44-52}, DOI = {10.1016/j.ymgme.2015.06.005}, keywords = {transsulfuration, methyltransferases, S-adenosylhomocysteine, liver transplantation}, journal = {Molecular genetics and metabolism}, doi = {10.1016/j.ymgme.2015.06.005}, volume = {116}, number = {1-2}, issn = {1096-7192}, title = {Liver transplantation for treatment of severe S- adenosylhomocysteine hydrolase deficiency}, keyword = {transsulfuration, methyltransferases, S-adenosylhomocysteine, liver transplantation} }
@article{article, author = {Strauss, Kevin A. and Ferreira, Carlos and Bottiglieri, Teodoro and Zhao, Xueqing and Arning, Erland and Zhang, Shucha and Zeisel, Steven H. and Escolar, Maria L. and Presnick, Nancy and Puffenberger, Erik G. and Vugrek, Oliver and Kova\v{c}evi\'{c}, Lucija and Wagner, Conrad and Mazariegos, George V. and Mudd, S. Harvey and Soltys, Kyle}, year = {2015}, pages = {44-52}, DOI = {10.1016/j.ymgme.2015.06.005}, keywords = {transsulfuration, methyltransferases, S-adenosylhomocysteine, liver transplantation}, journal = {Molecular genetics and metabolism}, doi = {10.1016/j.ymgme.2015.06.005}, volume = {116}, number = {1-2}, issn = {1096-7192}, title = {Liver transplantation for treatment of severe S- adenosylhomocysteine hydrolase deficiency}, keyword = {transsulfuration, methyltransferases, S-adenosylhomocysteine, liver transplantation} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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