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GTR Home > Conditions/Phenotypes > Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Synonyms
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive severe neurometabolic disorder affecting the muscles, liver, and nervous system, resulting in death in infancy (summary by Bas et al., 2020). Other causes of hypermethioninemia include hereditary tyrosinemia (276700), cystathionine beta-synthase deficiency (236200), and methionine adenosyltransferase deficiency (250850). [from OMIM]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SAHH, adoHcyase, AHCY
    Summary: adenosylhomocysteinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2021
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Methionine +/- Elevated Homocysteine, Homocystinuria (Cystathionine beta-synthase deficiency), 2021
  • ACMG Algorithm, 2021
    American College of Medical Genetics and Genomics, Algorithm, Elevated Methionine +/- Elevated Homocysteine, 2021

Molecular resources

Consumer resources

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