Disease or Syndrome
hyperlysinemia
Subclass of:
Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn
Definitions related to hyperlysinemias:
  • An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems.
    NCI
    U.S. National Cancer Institute, 2021
  • An increased concentration of lysine in the blood.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2025
  • A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • 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....
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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