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Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency

Disease definition

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.


Classification level: Disorder
  • Synonym(s):
    • Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.1
  • OMIM: 613752
  • UMLS: C3151058
  • MeSH: -
  • GARD: -
  • MedDRA: -
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