Background: Sialuria is a rare inborn error of metabolism caused by excessive synthesis of
sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDPGlcNAc
2-Epimerase/ManNAc Kinase (GNE/MNK).
Objective: This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria
in Pakistani children/adolescents.
Methods: The current study genotyped GNE SNPs rs121908621, rs121908622 and rs121908623 by using
PCR, RFLP, and DNA sequencing methods. Socioeconomic and clinical histories were also recorded.
Results: Our data suggest that clinical symptoms and financial status play a significant role in conferring
sialuria related Intellectual Disability (ID). SNP: rs121908623 showed G/A substitution (R263Q)
in the GNE gene.
Conclusion: We have identified one case study in Pakistan, so this makes our research a leap forward
towards the identification of the 10th case study worldwide.