Research group of Marie Zikanova, Ph.D. focuses on rare disorders of purine metabolism.
- ADSL deficiency
- PAICS deficiency
- PFAS deficiency
The diagnostics of the patients with ADSL deficiency is established from 1993 in The Department of Pediatrics and Inherited Metabolic Disorders of the First Medical Faculty of Charles University and the General University Hospital, Czech Republic. We diagnose children with non specific neurological and psychomotoric impairment using biochemical, genetical and metabolomic analysis. We have collected a globally unique group of patients with ADSL deficiency and offer a complex diagnostic plan to clinical
During the examination of families, we identified the full-length coding
sequence of the gene for ADSL and its isoforms (NCBI AF067854, AF067853),
characterized new mutations and the neonatal form of ADSL deficiency and
defined genotype-phenotype correlation in many cases.
We provide parental consultation and try to connect families who suffer from this rare disease. For research and diagnostics purpose, we offer commercially unavailable metabolites - SAdo, SAICAR and SAICAr and their isotopically labeled analogues.
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