Naslov
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

Autori
Barić, Ivo ; Erdol, Sahin ; Saglam, Halil ; Lovrić, Mila ; Belužić, Robert ; Vugrek, Oliver ; Blom, Henk J. ; Fumić, Ksenija

Vrsta, podvrsta i kategorija rada
Poglavlja u knjigama, znanstveni

Knjiga
JIMD Reports, Volume 31

Urednik/ci
Morava, Eva

Izdavač
Springer

Grad
Berlin

Godina
2016

Raspon stranica
101-106

ISBN
978-3-319-56440-1

ISSN
2192-8304

Ključne riječi
Glycine-N-methyltransferase deficiency, Hypermethioninemia, Inherited liver disease, Methylation disorders

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti

Napomena
FP7-REGPOT-2012-2013-1 316289 InnoMol

POVEZANOST RADA