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Springer, Berlin, Heidelberg
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Authors: Ivo Barić Sahin Erdol Halil Saglam Mila Lovrić Robert Belužić Oliver Vugrek Henk J Blom Ksenija Fumić
Publish Date: 2016
Volume: , Issue: , Pages: 101-106
Abstract
Glycine Nmethyltransferase 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 Nmethyltransferase 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 diseasesThe study was supported by the project “European Network and Registry for Homocystinurias and Methylation Defects EHOD” which is cofunded by the European Union in the framework of the Health Program No2012 12 02 OV and RB were supported by FP7REGPOT201220131 Grant Agreement Number 316289InnoMol
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