The use of metabolomics in diagnosing and evaluating inborn metabolism errors
Metabolomics and Clinical Approach, NOVA Publications , ss.287-296, 2023
- Yayın Türü: Kitapta Bölüm / Araştırma Kitabı
- Basım Tarihi: 2023
- Yayınevi: NOVA Publications
- Sayfa Sayıları: ss.287-296
- Anahtar Kelimeler: Inborn error of metabolism, Metabolic diseases, Metabolomics, Newborn
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Metabolites are small molecules that are the end products of enzymatic processes in the human body. Inborn errors of metabolism (IEM) are inherited, known to have a poor prognosis, generally and luckily rarely diseases. More than 1000 diseases were defined about metabolite deficiency, enzymatic dysfunction, or absence (Ferreira & van Karnebeek, 2019). The first studies on inborn errors of metabolism started in the 1900s with most popular diseases including albinisim, cystinuria, and alkaptonuria (Vangala & Tonelli, 2007). From those years, with the help of new technology, new studies are performed with a few drops of blood and provided to check more than 20 metabolic diseases with one sample. More than 100 years before, diagnosed metabolic diseases numbers were smaller, but for now the diagnostic ratio of IEM increased 5 times much more than those years. Thus, an early diagnosis can be possible with screening all newborns, not only probable patients or newborns with a family history. So, in many countries it becomes a part of the routine neonatal screening programme to diagnose in early newborn period before symptoms occur. By the help of technological systems, the new study area of the point is metabolomics and the analysing of the metabolite profiles of the biological system to understand genes' effects in many metabolic inherited diseases.