Hyperlysinemia

Disease Overview

Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. Hyperlysinemia is caused by mutations in the AASS gene. It has an autosomal recessive pattern of inheritance.[5805][5806]

Synonyms

• Lysine alpha-ketoglutarate reductase deficiency
• Alpha-aminoadipic semialdehyde synthase deficiency
• L-lysine NAD-oxido-reductase deficiency
• Lysine intolerance