Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? (CROSBI ID 59816)
Prilog u knjizi | izvorni znanstveni rad
Podaci o odgovornosti
Barić, Ivo ; Erdol, Sahin ; Saglam, Halil ; Lovrić, Mila ; Belužić, Robert ; Vugrek, Oliver ; Blom, Henk J. ; Fumić, Ksenija
engleski
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
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.
Glycine-N-methyltransferase deficiency, Hypermethioninemia, Inherited liver disease, Methylation disorders
FP7-REGPOT-2012-2013-1 316289 InnoMol
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
101-106.
objavljeno
10.1007/8904_2016_543
Podaci o knjizi
JIMD Reports, Volume 31
Morava, Eva
Berlin: Springer
2016.
978-3-319-56440-1
2192-8304