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Disease definition

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.


Classification level: Disorder
  • Synonym(s):
    • Hyperlysinemia type II
    • Saccharopine dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.3
  • OMIM: 268700
  • UMLS: C0268556  C2936921
  • MeSH: C537218
  • GARD: 314
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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