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Hypermethioninemia due to glycine N-methyltransferase deficiency

Disease definition

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.

ORPHA:289891

Classification level: Disorder
  • Synonym(s):
    • Glycine N-methyltransferase deficiency
    • Hypermethioninemia due to GNMT deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E72.1
  • ICD-11: 5C50.B
  • OMIM: 606664
  • UMLS: C1847720
  • MeSH: -
  • GARD: 10764
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.