Orphanet: Psychomotor delay due to S adenosylhomocysteine hydrolase deficiency

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Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency

Disease definition

A rare, genetic, inborn error of metabolism disorder characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. Epidemiology


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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