Orphanet: AICA ribosiduria

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Disease definition

An extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


Classification level: Disorder
  • Synonym(s):
    • 5-amino-4-imidazole carboxamide ribosiduria
    • ATIC deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E79.8
  • OMIM: 608688
  • UMLS: C1837530
  • MeSH: -
  • GARD: -
  • MedDRA: -
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