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Psychomotor retardation 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.

ORPHA:88618

  • 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: -

Additional information

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