| Popis: |
Introduction: Nonketotic hyperglycinemia (NKH) is a rare disease that is caused by an autosomal recessive congenital error in glycine metabolism. This error causes an accumulation of this amino acid in the body, triggering a series of neurometabolic symptoms. There is no clear consensus on its diagnosis and treatment. Objective: This study aims to update the existing scientific evidence to date on nonketotic hyperglycinemia, regarding its diagnosis, as well as therapeutic possibilities. Likewise, this study wishes to contribute to the dissemination and visualization of this minority disease. Methods: An Scoping review of the scientific literature published from the PubMed, Scopus and Web of Science bibliographic databases was carried out to find the articles published during the last 30 years (1992-2022). With these results, he will prepare a 10 query questionnaire that will be submitted by email to the criteria of world-class specialists and experts on NKH. Practical application: This exploratory review on the diagnosis and treatment of NKH is the first existing scoping review in the international scientific literature on this disease. The combination of the scoping review together with the questionnaire specifically oriented to the resolution of doubts that have arisen during the review may contribute to complete the information in the diagnosis and treatment of the disease, with the possibility of improving the future treatment of these patients. Conclusion: This research can contribute both to unifying information on the diagnosis and treatment of NKH, and to sensitize the scientific community about the need for more research to contribute to the approach to patients with this rare disease. Key words: benzoate, dextromethorphan, diagnosis, glycine decarboxylase, glycine encephalopathy, glycinergic encephalopathy, NKH, non-ketotic hyperglycinemia, treatment. |
