Rare Disorders—Challenging and Underdiagnosed
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".
Deadline for manuscript submissions: closed (10 October 2023) | Viewed by 23822
Special Issue Editor
Interests: epilepsy; rare diseases; neurometabolic disorders, leukodystrophies; neurodevelopmental disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Rare disorders known as orphan diseases affect a small percentage of the population. There is no consensus or definition for these diseases. In the European Union, a disease is considered to be rare if it affects fewer than 1:2000. At present, about 7000 rare disorders have been detected. Most metabolic disorders or inborn errors of metabolism have neurological presentations, and rare disorders affecting the pediatric brain are complex conditions. The underlying mechanisms leading to structural damage are diverse, and the diagnostic imaging manifestations are often nonspecific. Early and specific diagnoses may prove crucial for further management and treatment.
In recent years, extraordinary progress has been made in developing effective treatments for rare disorders. However, there are still many challenges, especially regarding extended gene panels for investigating complex phenotypes. Along with the development and availability of genetic analyzes, by using next-generation sequencing over the last decade, an increasing knowledge of the genes and gene families that can be involved in pathogenesis helps to gain insights into the pathomechanisms underlying different forms of rare disorders.
Papers that contain an analysis of metabolic perturbations (effect of drugs, nutrients and the environment on metabolism/metabolic pathways) or metabolic pathways, networks, and inborn errors of metabolism are especially welcome.
On behalf of the Editorial Office, we invite you to contribute your research papers, review articles, and interesting case reports for peer-review and possible publication.
Dr. Justyna Paprocka
Guest Editor
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Keywords
- rare disorders
- neurometabolic disorders
- neurological symptoms
- treatment
- diagnostics
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