" /> AICAR transformylase deficiency - CISMeF





Preferred Label : AICAR transformylase deficiency;

ICD-11 definition : 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.;

ICD-11 synonym : ATIC deficiency; 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase deficiency; IMP cyclohydrolase deficiency; AICA-ribosiduria; 5-amino-4-imidazolecarboxamide ribosiduria;

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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.

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28/07/2025


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