201 top medical experts on Hypermethioninemia across 23 countries and 8 U.S. states, including 10 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Hypermethioninemia: A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Deficiency of Methionine Adenosyltransferase, GNMT Deficiency, Glycine N-Methyltransferase Deficiency, Hepatic Methionine Adenosyltransferase Deficiency, Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase, Isolated Persistent Hypermethioninemia, Methionine Adenosyltransferase Deficiency, Methioninemia, S-Adenosylhomocysteine Hydrolase Deficiency
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