Zobrazeno 1 - 10
of 330
pro vyhledávání: '"Hypermethioninemia"'
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Methionine (Met) is an essential amino acid, and its excessive dietary intake and/or its metabolism disturbance could lead to accumulation/depletion of hepatic Met and some of the key intermediates of these pathways, which would interfere normal live
Externí odkaz:
https://doaj.org/article/d46f49dd52844aceb58eea2217a64546
Autor:
Fan Tong, Yuchen Zhang, Chi Chen, Ling Zhu, Yijun Lu, Zhanming Zhang, Ting Chen, Jiaxuan Yan, Jing Zheng, Xiaoxu Zhao, Duo Zhou, Xin Yang, Rulai Yang, Xiaohui Cang, Pingping Jiang, Qiang Shu
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Methionine adenosyltransferase deficiency (MATD) is a rare metabolic disorder caused by mono- or biallelic MAT1A mutations that are not yet well understood. Of the 4,065,644 neonates screened between November 2010 and December 2021, 35 individuals ha
Externí odkaz:
https://doaj.org/article/80acc5aa6019472ca8a3e1d768b4972a
Akademický článek
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Autor:
Najmah Almuhsen, Simon‐pierre Guay, Marie Lefrancois, Cheryl Gauvin, AL Qasim Al Bahlani, Najma Ahmed, Christine Saint‐Martin, Tommy Gagnon, Paula Waters, Nancy Braverman, D. Buhas
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 52-59 (2021)
Abstract Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior reports show that most patients present in infancy with jaundice, hypotonia, development
Externí odkaz:
https://doaj.org/article/e77a685162f34ca1891ed887702aeba9
Autor:
Egidio Candela, Michele Zagariello, Valeria Di Natale, Rita Ortolano, Francesca Righetti, Valentina Assirelli, Giacomo Biasucci, Alessandra Cassio, Andrea Pession, Federico Baronio
Publikováno v:
Children, Vol 10, Iss 2, p 396 (2023)
Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine. Marked hyperhomocysteinemia is the hallmark of the disea
Externí odkaz:
https://doaj.org/article/6ddea534be3a4c6fb0b321597cf2d605
Akademický článek
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Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 41-46 (2019)
Abstract Background Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β‐synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestati
Externí odkaz:
https://doaj.org/article/df69a7ca6fe54a9f86e9000c98233341
Publikováno v:
Genes, Vol 13, Iss 7, p 1163 (2022)
Methionine adenosyltransferase I/III deficiency is an inborn error of metabolism due to mutations in the MAT1A gene. It is the most common cause of hypermethioninemia in newborn screening. Heterozygotes are often asymptomatic. In contrast, homozygous
Externí odkaz:
https://doaj.org/article/7d981b32621d4f6f95bb5025bab002d2
Autor:
Michael J. Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R. Ferreira
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 9-12 (2017)
Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hyper
Externí odkaz:
https://doaj.org/article/cb8c9af333a441f0864a3e9547815b5f
Autor:
Nancy Braverman, AL Qasim Al Bahlani, Najma Ahmed, Marie Lefrancois, Christine Saint-Martin, Najmah Almuhsen, Simon-Pierre Guay, Paula J. Waters, Tommy Gagnon, Daniela Buhas, Cheryl Gauvin
Publikováno v:
JIMD Reports
JIMD Reports, Vol 61, Iss 1, Pp 52-59 (2021)
JIMD Reports, Vol 61, Iss 1, Pp 52-59 (2021)
Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior reports show that most patients present in infancy with jaundice, hypotonia, developmental delay,