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http://hdl.handle.net/11452/30344
Başlık: | Glycine N-methyltransferase deficiency: A member of dysmethylating liver disorders? |
Yazarlar: | Baric, Ivo Lovric, Mila Beluzic, Robert Vugrek, Oliver Blom, Henk J. Fumic, Ksenija Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı. 0000-0003-0710-5422 0000-0003-4402-9609 Erdol, Şahin Sağlam, Halil C-7392-2019 54419947800 35612700100 |
Anahtar kelimeler: | Endocrinology & metabolism Genetics & heredity Glycine-N-methyltransferase deficiency Hypermethioninemia Inherited liver disease Methylation disorders Adenosylhomocysteine hydrolase deficiency S-adenosylhomocysteine Hepatocellular-carcinoma Methionine metabolism I/III deficiency Adenosylmethionine Disease Mutation Enzyme Mice |
Yayın Tarihi: | 2-Şub-2016 |
Yayıncı: | Springer |
Atıf: | Baric, I. vd. (2017). ''Glycine N-methyltransferase deficiency: A member of dysmethylating liver disorders?''. ed. M. Baumgartner, vd. JIMD Reports, 31, 101-106. |
Özet: | Glycine N-methyltransferase deficiency is an inherited disorder of methionine metabolism, reported so far in only four patients and characterised by permanent hypermethioninemia. This disorder has been considered as probably benign because moderate hepatomegaly in two patients was the only obvious symptom and mild to moderate elevation of aminotransferases the only laboratory abnormality. Our experience with the current novel patient points out that this disease, due to very high hypermethioninemia, is not harmless and that there may be diagnostic pitfalls in interpretation of biochemical hallmarks of the disease. Since the first description of glycine N-methyltransferase deficiency, other disorders of this metabolic pathway affecting the liver have been reported pointing to dysmethylation as the common pathogenetic mechanism. Therefore, we suggest the whole group to be named dysmethylating liver diseases. |
URI: | https://doi.org/10.1007/8904_2016_543 https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5388635&blobtype=pdf http://hdl.handle.net/11452/30344 |
ISSN: | 2192-8304 |
Koleksiyonlarda Görünür: | Scopus Web of Science |
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