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S-adenosylhomocysteine hydrolase deficiency

Disease definition

A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Antenatal, Childhood, Adolescent, Adult
  • ICD-10: E72.1
  • ICD-11: 5C50.B
  • OMIM: 613752
  • UMLS: C3151058
  • MeSH: -
  • GARD: -
  • MedDRA: -
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