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Hyperlysinemia

What is Hyperlysinemia?

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.

Other condition names

  • Hyperlysinemia type I
  • Lysine alpha-ketoglutarate reductase deficiency

Inheritance type

Autosomal recessive

Age of Onset

  • All ages
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.