Orphanet: Hyperlysinemia

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Disease definition

Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.


Classification level: Disorder
  • Synonym(s):
    • Hyperlysinemia type I
    • Lysine alpha-ketoglutarate reductase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.3
  • OMIM: 238700  238710
  • UMLS: C0268553  C0936256
  • MeSH: D020167
  • GARD: 2828
  • MedDRA: -
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