Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
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ABSTRACT:
SUBMITTER: Baric I
PROVIDER: S-EPMC5388635 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
Barić Ivo I Erdol Sahin S Saglam Halil H Lovrić Mila M Belužić Robert R Vugrek Oliver O Blom Henk J HJ Fumić Ksenija K
JIMD reports 20160521
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 hypermethionine ...[more]
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