AICA-ribosiduria

MONDO:0012099

AICA-ribosiduria is 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.

Also known as: 5-amino-4-imidazole carboxamide ribosiduria, AICA-ribosiduria due to ATIC deficiency, ATIC deficiency, AICAR transformylase/IMP cyclohydrolase deficiency, Aica-Ribosuria due to Atic deficiency, Atic deficiency

27 clinical trials for this condition and its sub-types, 1 tagged with AICA-ribosiduria itself.

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Where it sits in the disease tree

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↑ Developmental anomaly of metabolic origin (383) ↑ Congenital nervous system disorder (284) ↑ Hereditary macular dystrophy (70) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Inborn disorder of purine metabolism (14)

Including sub-types (27) Tagged with AICA-ribosiduria (1)

Trials to join now! 1

Could a simple diet change help kids with Ultra-Rare metabolic disorder?

Disease control Recruiting now

This study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise,…

Sponsor: Centre Hospitalier Universitaire de Saint Etienne • Aim: Disease control

Last updated Jun 27, 2026 12:30 UTC

AICA-ribosiduria

Where it sits in the disease tree

Could a simple diet change help kids with Ultra-Rare metabolic disorder?