Research.

Below are links to public articles about the ATIC gene mutation. While there are other derivative articles, the ones below are the most relevant. If you are interested in conducting additional research, please complete the contact form.

First documented case of ATIC mutation in human patient

• (2004) "AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC" 
• www.ncbi.nlm.nih.gov/pmc/articles/PMC1182092/

Paper identifying and connecting three additional cases in France

• (2020) "AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case"
• https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12274

Paper documenting one case in India

• (2022) "Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency"
• https://doi.org/10.1016/j.braindev.2022.05.004

Paper documenting two cases in Italy

• (2022) "Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene"
• https://doi.org/10.1002/ajmg.a.63036​

Paper documenting one case in Germany (Parents are of Syrian origin)

• (2024) "Treatment of AICA ribsosiduria by supression of de novo purine synthesis"
• ​doi.org/10.1016/j.ymgme.2023.108124

Other rare conditions caused by a disruption along the same de novo purine biosynthesis pathway

• (2014) "Metabolic disorders of purine metabolism affecting the nervous system"
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215161/#R17 

General NIH Gene reference page

• https://ghr.nlm.nih.gov/gene/ATIC

General EURORDIS ATIC Deficiency reference page

• https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250977