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 September 2023.
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Hypermethioninemia due to glycine N-methyltransferase deficiency?
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Advocacy Organizations
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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