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Hyperdibasic aminoaciduria type 1

Disease definition

Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.

ORPHA:1032

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E72.0
  • OMIM: 222690
  • UMLS: C2673736
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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