Hypermethioninemia due to glycine N-methyltransferase deficiency

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Hypermethioninemia due to glycine N-methyltransferase deficiency

Synonyms: Glycine N-methyltransferase deficiency | Hypermethioninemia due to GNMT deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare genetic inborn error of metabolism characterized by a relatively benign clinical phenotype with only mild to moderate hepatomegaly reported in addition to laboratory studies revealing permanent greatly increased hypermethioninemia mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Hypermethioninemia due to glycine N-methyltransferase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Clinical Trials

For a list of clinical trials in this disease area, please click here.