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Article

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

Journal of inherited metabolic disease - 1 Nov 2020

Ramond Francis, Rio Marlène, Héron Bénédicte, Imbard Apolline, Marie Sandrine, Billiemaz Kareen, Denommé-Pichon Anne-Sophie, Kuentz Paul, Ceballos Irène, Piraud Monique, Vincent Marie-Françoise, Touraine Renaud

Abstract excerpt

5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de novo purine synthesis. It is characterized biochemically by the accumulation of AICA-riboside in urine. AICA-ribosiduria had been reported in only one individual,...

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PMID: 32557644
DOI: 10.1002/jimd.12274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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