Generate QR code
Open Access
Subscription Access
Clinical footprints of inherited metabolic disorders
https://doi.org/10.25557/2073-7998.2025.07.75-77
Abstract
Clinical and laboratory diagnosis of hereditary metabolic diseases is difficult. In the group of patients with DNA-verified diagnosis, a high prevalence of immunological, neurological and nephrological disorders in pediatric patients was noted. Increased awareness among health care workers and the availability of metabolic tests can facilitate early diagnosis. NGS methods show high diagnostic value.
About the Authors
O. V. Novoselova
JSC First Genetics
Russian Federation
Russian Federation
42, building 1, Bolshoy blvd, Skolkovo Innovation Center, Moscow, 121205
I. S. Kazachkova
Digital Genomics
Russian Federation
Russian Federation
20, Novoslobodskaya st., Moscow, 127030
N. I. Isaeva
JSC First Genetics
Russian Federation
Russian Federation
42, building 1, Bolshoy blvd, Skolkovo Innovation Center, Moscow, 121205
R. A. Bikanov
JSC First Genetics
Russian Federation
Russian Federation
42, building 1, Bolshoy blvd, Skolkovo Innovation Center, Moscow, 121205
References
1. Ferreira C.R., Rahman S., Keller M., Zschocke J; ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021;44(1):164-177. doi: 10.1002/jimd.12348.
2. Slenter D.N., Hemel I.M.G.M., Evelo C.T., et al. Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations. Orphanet J Rare Dis. 2023;18(1):95. doi: 10.1186/s13023-023-02683-9.
3. Oliva Mussarra C., García-Villoria J. Metabolomic Diagnostic in Inherited Metabolic Disorders: Historical Progress and Future Perspectives [Internet]. Relevant Applications of High-Performance Liquid Chromatography in Food, Environmental, Clinical and Biological Fields. IntechOpen; 2024. Available from: http://dx.doi.org/10.5772/ intechopen.1006583
Review
For citations:
Novoselova O.V., Kazachkova I.S., Isaeva N.I., Bikanov R.A. Clinical footprints of inherited metabolic disorders. Medical Genetics. 2025;24(7):75-77. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.75-77
Views:
8
Email this article 