Hyperlysinemia

What is Hyperlysinemia?

A rare autosomal recessive disorder of lysine metabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Hyperlysinemia type I has been associated with a highly variable phenotype including seizures, hypotonia, and mild psychomotor delay, although isolated hyperlysinemia is probably a benign condition.

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.