Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency

AICA (5-aminoimidazole-4-carboxamide) ribosiduria is an inborn error in purine biosynthesis caused due to biallelic pathogenic variants in the 5-aminoimidazole-4-carboxamide ribonucleotide-formyltransferase/imp cyclohydrolase (ATIC) gene located on chromosome 2q35. ATIC codes for a bifunctional enzyme, AICAR transformylase and inosine monophosphate (IMP) cyclohydrolase, which catalyse the last two steps of de novo purine synthesis. This disorder has been previously reported in only 4 cases worldwide, and herein, we report the first from India.

Source: Brain and Development - May 27, 2022 Category: Neurology Authors: Praisy Joy, Vrisha Madhuri, Thomas Palocaren, Sweta Das, Suneetha Susan Cleave Abraham, Sophy Korula, Beena Koshy, John Jose, Mahalakshmi Chandran, Sumita Danda Tags: Case Report Source Type: research