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2-aminoadipic 2-oxoadipic aciduria

Disease definition

2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.

ORPHA:79154

Classification level: Disorder
  • Synonym(s):
    • Alpha-aminoadipic aciduria
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Childhood
  • ICD-10: E72.3
  • OMIM: 204750
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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