DOI:
https://doi.org/10.71337/inlibrary.uz.science-research.139727Keywords:
genetic disorders amino acid metabolism phenylketonuria homocystinuria tyrosinemia metabolic disorders molecular diagnostics.Abstract
This article provides a systematic review of genetic disorders associated with amino acid metabolism dysfunction. Normal amino acid metabolism is essential for vital physiological processes, and its disruption can lead to various clinical symptoms and chronic diseases. Disorders such as phenylketonuria, homocystinuria, tyrosinemia, and other metabolic abnormalities are associated with neurological impairments, hepatic and renal dysfunction, and cardiometabolic complications. The article details the pathophysiology, molecular mechanisms, genetic basis, and diagnostic approaches of these disorders. Additionally, it discusses early detection strategies and individualized treatment options through genetic testing and metabolic monitoring.References
Scriver, C. R., Kaufman, S. — The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, 2001. https://www.mhmedical.com
Hoffmann, G. F., Zschocke, J. — Inborn Errors of Amino Acid Metabolism: Clinical and Laboratory Aspects. Orphanet Journal of Rare Diseases, 2008. https://doi.org/10.1186/1750-1172-3-6
Blau, N., van Spronsen, F. J., Levy, H. L. — Phenylketonuria. Lancet, 2010. https://doi.org/10.1016/S0140-6736(10)60961-0
Mudd, S. H., Finkelstein, J. D. — Homocystinuria: Genetics, Biochemistry, and Clinical Features. The New England Journal of Medicine, 2001. https://doi.org/10.1056/NEJMra010460
Grünert, S. C., Sass, J. O. — Tyrosinemia Type I: Pathophysiology and Treatment.
Journal of Inherited Metabolic Disease, 2012. https://doi.org/10.1007/s10545-012-9447-4
Williams, R. J., et al. — Amino Acid Metabolism Disorders and Their Management. Current Opinion in Pediatrics, 2015. https://doi.org/10.1097/MOP.0000000000000221
