Abstract
Background
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.
Case Report
The proband presented with global developmental delay, developmental hip dysplasia
(DDH), acyanotic heart disease and nystagmoid eye movements. Whole exome sequencing
(WES) identified compound heterozygous pathogenic variants in the ATIC. A novel splice site variant; c.1321-2A > G and a previously reported missense variant;
c.1277A > G (p.Lys426Arg) were identified. Segregation analysis of parents showed
the father to be a heterozygous carrier for the splice site variant and the mother,
a heterozygous carrier for the missense variant.
Conclusion
This case of a rare genetic disorder of purine biosynthesis of ATIC deficiency is
the first case reported from India. Early diagnosis lead to early interventional therapy
and genetic counselling.
Keywords
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Article info
Publication history
Published online: May 27, 2022
Accepted:
May 12,
2022
Received in revised form:
May 3,
2022
Received:
November 5,
2021
Identification
Copyright
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.
