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Argininemia

Disease definition

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ORPHA:90

  • Synonym(s):
    • Arginase deficiency
    • Hyperargininemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E72.2
  • OMIM: 207800
  • UMLS: C0268548
  • MeSH: D020162
  • GARD: 5840
  • MedDRA: 10062695

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